American Journal of Medical Genetics 35:95-99 (1990)
Brief Clinical Report Ectro-amelia Syndrome Associated With an Interstitial Deletion of 7q Martha A. Morey and Rodney R. Higgins Divisions of Genetics and Cytagenetics, The Children’s Mercy Hospital, Kansas City, Missouri
cloudy corneas, apparently low-set malformed ears that were posteriorly angulated, thin vermilion border, wide mouth, broad philtrum, gingival hyperplasia, and micrognathia. There was ectrodactyly of the right hand only. A small skin tag was present on the left buttock. Absence of the lower limbs was the most obvious abnormality. The infant was transported to the pediatric hospital. He was weaned from oxygen on day 2. A skeletal survey (Figs. 2,3) disclosed a normal skull, vertebrae, and ribs; minimal hooks on the distal end of the right clavicle; KEY WORDS: amelia, 7q interstitial deletion, minimal shortness of the right forearm with the ulna ectrodactyly wide at the distal end; 2 digits on the right hand and a normal left hand; symmetrical iliac crests; hypoplasia of the left pubic ramus, and mild diastasis of the symphysis INTRODUCTION pubis, Corneal clouding had gradually cleared. He had Since the first description ofa partial 7q deletion by de feeding difficulties and a weak cry. An atrial septal Grouchy et al. 119681, at least 54 cases of terminal or defect (ASD) was diagnosed at 4 weeks. The results of interstitial deletions have been reported. Terminal dele- audiological tests suggested congenital hearing loss. He tions of 7q32+qter are thought to have the most consis- had intermittent episodes of hyperthermia. Bilateral tent phenotype [Tiller et al., 19881. Proximal deletions inguinal hernia repair was done at 6 weeks. from the centromere to 7q21 or 7q22 do not as yet show a At age 7 weeks the infant was discharged but was consistent phenotype [Tajara et al., 19891. Thirteen unable to finish oral feedings and required gavage feedcases of interstitial deletions with breakpoints involv- ings. At age 3 months he was re-admitted to the hospital ing the midportion of chromosome 7q have been re- with a gastrointestinal infection. Rotavirus was culported. The present report describes a combination of tured. His head measured 33.5 cm. The increase in head ectrodactyly and amelia in a patient with a n interstitial size from birth was normal, though agenesis of the deletion of chromosome 7(7q21.3-+7q31.3). Our case corpus callosum and mild ventriculomegaly were preswas first presented by Higgins et al. C19871. ent on CT scan. He was discharged on the 14th day and re-admitted a t age 5 months with a high fever. The CLINICAL REPORT septic work-up was negative. Hypotonia of the neck, A black male (Fig. 1)was delivered by cesarean sec- trunk, and upper limbs was prominent a t 2% months tion a t 37 weeks of gestation to a non-consanguineous and pronounced at 5 months. The child died a t home a t 22-year-old mother and 26-year-old father. The infant’s age 7 months. birth weight was 1.5 kg, his length was unrecorded, and his head circumference (OFC) was 31.5 cm (20th cenPrenatal History tile). Apgar scores were 6 a t one and a t 5 minutes. Light meconium staining was noted. Anomalies included Both parents were in good health. The mother denied widely patent sutures and fontanels, hypertelorism, drug and alcohol use. The father occasionally used marijuana and alcohol. The mother had a trichomonas infection at the time of conception. At 16-18 weeks of gestation the mother was treated for a bladder infection. Received for publication March 16, 1989; revision received AuUltrasonography was performed at 18 weeks of gestagust 2, 1989. tion, and showed amelia of lower limbs. Amniocentesis Address reprint requests to Martha A. Morey, M.S., R.N., Diviwas performed at 36-38 weeks of gestation. The cytosion of Genetics, The Children’s Mercy Hospital, Twenty-fourth genetic results were reported on the day of birth. and Gillham Road, Kansas City, MO 64108.
We describe a premature male infant with an interstitial deletion of 7q [46,XY,de1(7)(pter-. q21.3::q31.3+qterl. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3+ q31.3 region are reviewed with emphasis on limb anomalies.
~
0 1990 Wiley-Liss, Inc.
96
Morey and Higgins
Fig. 1. The patient with ectrodactyly and absence of legs.
Fig. 2. Skeletal radiograph demonstrating absence of legs.
Cytogenetic Studies Each of the 20 GTG banded amniotic fluid cells analyzed showed a del(7) (q21.3q31.3)a t the 575 band level (Fig. 4). Peripheral blood cultures confirmed this diagnosis. Chromosome studies from peripheral blood cultures of the mother and father were normal at the 475 and 425 level of banding, respectively. DISCUSSION Limb reductions from a single causative agent, thalidomide, range from the total absence of limbs to ectrodactyly [Taussig, 19621. The total absence of a limb is rare; agenesis of legs is rarer than that of arms [Warkany, 19711.A gestationally lethal case of quadrilateral amelia having a monosomy, thought to be chromosome 7,8, 10 or 11was reported by Pawlowitzki et al. [19731. Also, an autosomal recessive disorder with nearly complete tetra-amelia and other anomalies has been described [Ohdo et al., 19871. A highly lethal, possibly X-linked recessive disorder showing tetra-amelia has been reported [Zimmer et al., 19851. Neither the autosoma1 recessive disorder nor the possibly X-linked recessive disorder was reported to be associated with a chromosome abnormality.
Fig. 3. Radiograph of right hand showing ectrodactyly.
Ectro-Amelia and 7q Interstitial Deletion
Chromosome 7
97
pictures. Dr. I)J. Harris for photographs, and J.F. Knops for cytogenetic technical assistance
REFERENCES
21.3 31.3
Y H
ie
21.3 e
31 - 3+
Fig 4 Normal chromosome 7 and diagram (A);deleted chromosome 7(q21 3q31 31 and representative diagram (Bl
Clinical manifestations of our patient and of patients with 7q interstitial deletions with breakpoints similar to ours, as well as features of 3 patients having a deletion of 7(q21 or 22) only, and some features of 3 patients exhibiting ectrodactyly and having a n interstitial deletion with a distal breakpoint in the 7(q21 or 22) region are summarized in Table I. Aside from the striking manifestations of amelia, ectrodactyly, and gingival hyperplasia of our case, there docs not seem to be a distinct syndrome for the interstitial deletions beginning in the 7(q21 or 22) region and extending to 7(q31 or 32). Retardation was present in all. Initial feeding difficulties were found in most. Growth patterns varied from below the 3rd centile to greater than the 90th centile a t birth. Non-specific car, nose, and handllimblfoot abnormalitieswere present in many. Our case with a breakpoint a t 7(q21.3) and 3 cases LDel Porto et al., 1983; Pfeiffer, 1984; Tajara et al., 19891 with breakpoints a t 7(q21 or 22), each exhibiting ectrodactyly, suggest a locus in the vicinity of 7(q21or 22) for limb differentiation.
ACKNOWLEDGMENTS We are grateful to Dr. A. Segal for the radiological interpretation on the patient, Dr. F. ‘I’sai for use of x-ray
Ahuelo DR, Padre-Mendoza 7’ (19821 Cat-like cry and mrntal retardation owing to iq i n t ~ r s t i t i a ldeletion 17q22 +‘iq32) J Med Genet 19473 476 h j r d u d N, Rovinski tJ, Lambert JC, Galiana A 119761 Deletion interstitielle du hras long d’un chromosome 7 chez une pnfant lepre chaune Ann Genet (Paris1 19 265 268 Chitayat D, LMMcGillivrdvBC, Wood S, Kalousek DK. Langlois S, Applegarth DA (198x1 Inteistitial 7q deletion [4ti,XX,del(7)(pter+ q21 1 q22 +qter)l and the location of geneq for beta glucuronidase and cvstic fibrosis Am d Med Genet 31 655 661 de GrouLhy J Veslot J Boniiette J Roidot M (1968) A case of ”6p chromosomal aberration An1 J Dis Child 115 91-99 dro E, I ~ PMatte,.: C, Lo R e MI,, Ivaldi M, 1)) eIe7inne intersti71ale del hraccio lungo del Lroniomna i e suc cnrre1,iLioni c-linirtrp Pathnlopir a [Suppl] 76 268 - 2 i l PennisNR,Neu RL Hannprman RM t 19771 A partial 7q monosomy in an infant uith multiple anomalieq A m J Hum Genet 29 37A Franceschinr P, Silrngo MC, Ddvi GF, Smtoro MA h d n d i G, Fdhris C (19781 Interstitial deletion o f the long a r m of cliromowne 7 46 XX,de1(7)(pter-.q2200 q3200-+qter) Hum Genet 44 345-348 Higgins RR, Morey MA Harris DJ Knops JF 11987) Absence of legs, and other dvsmorphias, aswciated with interstitial deletion of the long a r m of chromosome 7 h i J Hum Genet 41 A122 Higginion G Weaver IID Magcnis RE, F’resrott G H , Haag C Hepburn DJ (19761 I n l e t 4 i t i a l deletion of the long a i m of chromnsome no 7 C i q I in ari infant w i t h multiple anomalies Clin Genet I 0 10:- 312 Hull DR, Kesslcr KK, Juhcrg I1C (1979) 7q interstitial deletion resulting in failure t o thrite and peculiar crq Comparison with previously reported 7ql and 7q2 d e l ~ t i o n s -2m J Hum Genet 31 97A Johnson WE, Kennel1 J H , Macintyre MN, Van Dyke DL (1978) An interstitial deletion on 7q in d femdle Am J Hum Genet 30 84A Klep-de Pater JM, Bijlqma JB. Bleeker Wapemakers EM, De f i a n c e H F I)e Vries-bkkers CMAM (197s) ltvo cases with different deletions ot the long arm of chromsome 7 J Med Genet 16 151 154 Martin-Pont B, Pikzer C. Dandine M Tamhoise A 119851 De novo interstitial deletion of the long arm of Lhromcwrnp 7 46,XY. d~ll‘iJ(q23,q32)Ann Genet !Paris) 28 251 253 Ohdo S Madokoro H Sonoda T, I’akri & Yasuda I, H Mori N (19871 Association or tetra-amelia. eclodei ma1 dysplasia, hvpoplastic lac rimal ducts and sacs opening towards the exterior peculiar face, and detelopmental retardation J Med Genet 24 609-612 Pawlowitzki 111, Cenani A , Frischbier H J (1973’ Autosomal monosomy t45,XX,C- in a human embryo with total anielia and further malformation.: Clin Genet 4 193 202 Pfciffer RA 11984) Interstitial deletion ofa chromosome 7 ( q l l 2q22 1) in a child with splithand splitfont malformation Ann Genet (Paris) 2 7 4 5 48 Serup L I 1980) Interstitial deletion of the long arm of chromosome 7 Hun1 Genet 54 19 23 Tdldra EH, Varella GsrLia hl Gusson ACT (1989) Interstitial longarm deletion of chromosome 7 and Pctrodactvly Am J Med Genet 32 192-194 Tdusbig HB (1962) A studj o f the German outbreak nf phocomelia JAMA 180 1106-1114 Trller Gb, Watson MS Iluncan LM DoRton SH (1988) C‘ongenital heart defect in a patient with deletion o f rhromosmne 7q AnYJ Med Genet 29 2S3- 287 Warkanq J tl971) “Congenital Rlalformations Notes and (’ommpnts Chicago Year Book Medical Publishers pp 939 957 Young RS,Weaver DD, Kukolich MK, Heererna NA. Pdlnier CG. K d wiia EL Bender HA I 1984) Terminal and interstitial deletions of the long arm of chromosome 7 A I eview with five new cases Am J Med Genet 17 437-450 Zimincr EZ, Taub E Sova Y, Divon MY, Pery M, PeretL BA (1985) Tetra-amelia with multiple malformations in six male fetuses of one kindred Eur ,J Fedidtr 144 412 414 ”
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D
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Interstitial deletions of 7(q21 or 22-q31 or 32) Subtotal.
De novo + + U + Sex M F F Growth retardation U + +
Brief Clinical Report Ectro-amelia Syndrome Associated With an Interstitial Deletion of 7q Martha A. Morey and Rodney R. Higgins Divisions of Genetics and Cytagenetics, The Children’s Mercy Hospital, Kansas City, Missouri
cloudy corneas, apparently low-set malformed ears that were posteriorly angulated, thin vermilion border, wide mouth, broad philtrum, gingival hyperplasia, and micrognathia. There was ectrodactyly of the right hand only. A small skin tag was present on the left buttock. Absence of the lower limbs was the most obvious abnormality. The infant was transported to the pediatric hospital. He was weaned from oxygen on day 2. A skeletal survey (Figs. 2,3) disclosed a normal skull, vertebrae, and ribs; minimal hooks on the distal end of the right clavicle; KEY WORDS: amelia, 7q interstitial deletion, minimal shortness of the right forearm with the ulna ectrodactyly wide at the distal end; 2 digits on the right hand and a normal left hand; symmetrical iliac crests; hypoplasia of the left pubic ramus, and mild diastasis of the symphysis INTRODUCTION pubis, Corneal clouding had gradually cleared. He had Since the first description ofa partial 7q deletion by de feeding difficulties and a weak cry. An atrial septal Grouchy et al. 119681, at least 54 cases of terminal or defect (ASD) was diagnosed at 4 weeks. The results of interstitial deletions have been reported. Terminal dele- audiological tests suggested congenital hearing loss. He tions of 7q32+qter are thought to have the most consis- had intermittent episodes of hyperthermia. Bilateral tent phenotype [Tiller et al., 19881. Proximal deletions inguinal hernia repair was done at 6 weeks. from the centromere to 7q21 or 7q22 do not as yet show a At age 7 weeks the infant was discharged but was consistent phenotype [Tajara et al., 19891. Thirteen unable to finish oral feedings and required gavage feedcases of interstitial deletions with breakpoints involv- ings. At age 3 months he was re-admitted to the hospital ing the midportion of chromosome 7q have been re- with a gastrointestinal infection. Rotavirus was culported. The present report describes a combination of tured. His head measured 33.5 cm. The increase in head ectrodactyly and amelia in a patient with a n interstitial size from birth was normal, though agenesis of the deletion of chromosome 7(7q21.3-+7q31.3). Our case corpus callosum and mild ventriculomegaly were preswas first presented by Higgins et al. C19871. ent on CT scan. He was discharged on the 14th day and re-admitted a t age 5 months with a high fever. The CLINICAL REPORT septic work-up was negative. Hypotonia of the neck, A black male (Fig. 1)was delivered by cesarean sec- trunk, and upper limbs was prominent a t 2% months tion a t 37 weeks of gestation to a non-consanguineous and pronounced at 5 months. The child died a t home a t 22-year-old mother and 26-year-old father. The infant’s age 7 months. birth weight was 1.5 kg, his length was unrecorded, and his head circumference (OFC) was 31.5 cm (20th cenPrenatal History tile). Apgar scores were 6 a t one and a t 5 minutes. Light meconium staining was noted. Anomalies included Both parents were in good health. The mother denied widely patent sutures and fontanels, hypertelorism, drug and alcohol use. The father occasionally used marijuana and alcohol. The mother had a trichomonas infection at the time of conception. At 16-18 weeks of gestation the mother was treated for a bladder infection. Received for publication March 16, 1989; revision received AuUltrasonography was performed at 18 weeks of gestagust 2, 1989. tion, and showed amelia of lower limbs. Amniocentesis Address reprint requests to Martha A. Morey, M.S., R.N., Diviwas performed at 36-38 weeks of gestation. The cytosion of Genetics, The Children’s Mercy Hospital, Twenty-fourth genetic results were reported on the day of birth. and Gillham Road, Kansas City, MO 64108.
We describe a premature male infant with an interstitial deletion of 7q [46,XY,de1(7)(pter-. q21.3::q31.3+qterl. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3+ q31.3 region are reviewed with emphasis on limb anomalies.
~
0 1990 Wiley-Liss, Inc.
96
Morey and Higgins
Fig. 1. The patient with ectrodactyly and absence of legs.
Fig. 2. Skeletal radiograph demonstrating absence of legs.
Cytogenetic Studies Each of the 20 GTG banded amniotic fluid cells analyzed showed a del(7) (q21.3q31.3)a t the 575 band level (Fig. 4). Peripheral blood cultures confirmed this diagnosis. Chromosome studies from peripheral blood cultures of the mother and father were normal at the 475 and 425 level of banding, respectively. DISCUSSION Limb reductions from a single causative agent, thalidomide, range from the total absence of limbs to ectrodactyly [Taussig, 19621. The total absence of a limb is rare; agenesis of legs is rarer than that of arms [Warkany, 19711.A gestationally lethal case of quadrilateral amelia having a monosomy, thought to be chromosome 7,8, 10 or 11was reported by Pawlowitzki et al. [19731. Also, an autosomal recessive disorder with nearly complete tetra-amelia and other anomalies has been described [Ohdo et al., 19871. A highly lethal, possibly X-linked recessive disorder showing tetra-amelia has been reported [Zimmer et al., 19851. Neither the autosoma1 recessive disorder nor the possibly X-linked recessive disorder was reported to be associated with a chromosome abnormality.
Fig. 3. Radiograph of right hand showing ectrodactyly.
Ectro-Amelia and 7q Interstitial Deletion
Chromosome 7
97
pictures. Dr. I)J. Harris for photographs, and J.F. Knops for cytogenetic technical assistance
REFERENCES
21.3 31.3
Y H
ie
21.3 e
31 - 3+
Fig 4 Normal chromosome 7 and diagram (A);deleted chromosome 7(q21 3q31 31 and representative diagram (Bl
Clinical manifestations of our patient and of patients with 7q interstitial deletions with breakpoints similar to ours, as well as features of 3 patients having a deletion of 7(q21 or 22) only, and some features of 3 patients exhibiting ectrodactyly and having a n interstitial deletion with a distal breakpoint in the 7(q21 or 22) region are summarized in Table I. Aside from the striking manifestations of amelia, ectrodactyly, and gingival hyperplasia of our case, there docs not seem to be a distinct syndrome for the interstitial deletions beginning in the 7(q21 or 22) region and extending to 7(q31 or 32). Retardation was present in all. Initial feeding difficulties were found in most. Growth patterns varied from below the 3rd centile to greater than the 90th centile a t birth. Non-specific car, nose, and handllimblfoot abnormalitieswere present in many. Our case with a breakpoint a t 7(q21.3) and 3 cases LDel Porto et al., 1983; Pfeiffer, 1984; Tajara et al., 19891 with breakpoints a t 7(q21 or 22), each exhibiting ectrodactyly, suggest a locus in the vicinity of 7(q21or 22) for limb differentiation.
ACKNOWLEDGMENTS We are grateful to Dr. A. Segal for the radiological interpretation on the patient, Dr. F. ‘I’sai for use of x-ray
Ahuelo DR, Padre-Mendoza 7’ (19821 Cat-like cry and mrntal retardation owing to iq i n t ~ r s t i t i a ldeletion 17q22 +‘iq32) J Med Genet 19473 476 h j r d u d N, Rovinski tJ, Lambert JC, Galiana A 119761 Deletion interstitielle du hras long d’un chromosome 7 chez une pnfant lepre chaune Ann Genet (Paris1 19 265 268 Chitayat D, LMMcGillivrdvBC, Wood S, Kalousek DK. Langlois S, Applegarth DA (198x1 Inteistitial 7q deletion [4ti,XX,del(7)(pter+ q21 1 q22 +qter)l and the location of geneq for beta glucuronidase and cvstic fibrosis Am d Med Genet 31 655 661 de GrouLhy J Veslot J Boniiette J Roidot M (1968) A case of ”6p chromosomal aberration An1 J Dis Child 115 91-99 dro E, I ~ PMatte,.: C, Lo R e MI,, Ivaldi M, 1)) eIe7inne intersti71ale del hraccio lungo del Lroniomna i e suc cnrre1,iLioni c-linirtrp Pathnlopir a [Suppl] 76 268 - 2 i l PennisNR,Neu RL Hannprman RM t 19771 A partial 7q monosomy in an infant uith multiple anomalieq A m J Hum Genet 29 37A Franceschinr P, Silrngo MC, Ddvi GF, Smtoro MA h d n d i G, Fdhris C (19781 Interstitial deletion o f the long a r m of cliromowne 7 46 XX,de1(7)(pter-.q2200 q3200-+qter) Hum Genet 44 345-348 Higgins RR, Morey MA Harris DJ Knops JF 11987) Absence of legs, and other dvsmorphias, aswciated with interstitial deletion of the long a r m of chromosome 7 h i J Hum Genet 41 A122 Higginion G Weaver IID Magcnis RE, F’resrott G H , Haag C Hepburn DJ (19761 I n l e t 4 i t i a l deletion of the long a i m of chromnsome no 7 C i q I in ari infant w i t h multiple anomalies Clin Genet I 0 10:- 312 Hull DR, Kesslcr KK, Juhcrg I1C (1979) 7q interstitial deletion resulting in failure t o thrite and peculiar crq Comparison with previously reported 7ql and 7q2 d e l ~ t i o n s -2m J Hum Genet 31 97A Johnson WE, Kennel1 J H , Macintyre MN, Van Dyke DL (1978) An interstitial deletion on 7q in d femdle Am J Hum Genet 30 84A Klep-de Pater JM, Bijlqma JB. Bleeker Wapemakers EM, De f i a n c e H F I)e Vries-bkkers CMAM (197s) ltvo cases with different deletions ot the long arm of chromsome 7 J Med Genet 16 151 154 Martin-Pont B, Pikzer C. Dandine M Tamhoise A 119851 De novo interstitial deletion of the long arm of Lhromcwrnp 7 46,XY. d~ll‘iJ(q23,q32)Ann Genet !Paris) 28 251 253 Ohdo S Madokoro H Sonoda T, I’akri & Yasuda I, H Mori N (19871 Association or tetra-amelia. eclodei ma1 dysplasia, hvpoplastic lac rimal ducts and sacs opening towards the exterior peculiar face, and detelopmental retardation J Med Genet 24 609-612 Pawlowitzki 111, Cenani A , Frischbier H J (1973’ Autosomal monosomy t45,XX,C- in a human embryo with total anielia and further malformation.: Clin Genet 4 193 202 Pfciffer RA 11984) Interstitial deletion ofa chromosome 7 ( q l l 2q22 1) in a child with splithand splitfont malformation Ann Genet (Paris) 2 7 4 5 48 Serup L I 1980) Interstitial deletion of the long arm of chromosome 7 Hun1 Genet 54 19 23 Tdldra EH, Varella GsrLia hl Gusson ACT (1989) Interstitial longarm deletion of chromosome 7 and Pctrodactvly Am J Med Genet 32 192-194 Tdusbig HB (1962) A studj o f the German outbreak nf phocomelia JAMA 180 1106-1114 Trller Gb, Watson MS Iluncan LM DoRton SH (1988) C‘ongenital heart defect in a patient with deletion o f rhromosmne 7q AnYJ Med Genet 29 2S3- 287 Warkanq J tl971) “Congenital Rlalformations Notes and (’ommpnts Chicago Year Book Medical Publishers pp 939 957 Young RS,Weaver DD, Kukolich MK, Heererna NA. Pdlnier CG. K d wiia EL Bender HA I 1984) Terminal and interstitial deletions of the long arm of chromosome 7 A I eview with five new cases Am J Med Genet 17 437-450 Zimincr EZ, Taub E Sova Y, Divon MY, Pery M, PeretL BA (1985) Tetra-amelia with multiple malformations in six male fetuses of one kindred Eur ,J Fedidtr 144 412 414 ”
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- - + + - -
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D
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Interstitial deletions of 7(q21 or 22-q31 or 32) Subtotal.
De novo + + U + Sex M F F Growth retardation U + +
