American Journal of Medical Genetics 37:79-82 (1990)
Brief Clinical Report Ring Chromosome 4 in a Child With Duodenal Atresia Fahed Halal and Michel Vekemans Division of Medical Genetics, Montreal Children’s Hospital, McGill University (F.H., M.V.) and Department of Pediatrics (F.H.), H6pital Notre-Dame and H6pital Ste-Justine, Universite de Montrkal, Montreal, Quebec, Canada We report on a 19-month-old girl with ring chromosome 4 and a multiple congenital anomaly syndrome. The clinical and cytogenetic findings are compared with those of previous cases in whom the breakpoints in ring chromosome 4 are known.
KEY WORDS: growth retardation, microcephaly, ventricular septal defect,psychomotor retardation INTRODUCTION Only a few patients have been reported t o have a ring 4 chromosome, and most were described before chromosome banding studies were available [Carter et al., 1969; Dallaire, 1969; Faed et al., 1969; Hecht, 1969; Bobrow et al., 1971; Surana et al., 1971; Bofinger et al., 19731. In those who have been described recently and have had chromosome banding studies, there seem to be differences in the amount of deleted genetic material [Niss and Passarge, 1975; Chavin-Colin et al., 1977; Fraisse et al., 1977; McDermott et al., 1977; Perez-Castillo and Abrisqueta, 1977; del Mazo et al., 1978; Finley et al., 1981; Gutkowska et al., 1985; Kosztolanyi, 1985; Fryns et al., 19881. We report on a child with ring chromosome 4 and multiple congenital anomalies. The clinical and cytogenetic findings are compared with those of previous cases in whom the breakpoints in ring chromosome4 are known. CLINICAL REPORT The patient was the first child of a 47-yr-oldfather and a 24-yr-old mother; the first pregnancy ended in an early miscarriage. From a previous marriage, the father had 2 children, a normal boy, and a girl with anal steno-
Received for publication September 20, 1989; revision received January 2, 1990. Address reprint requests to Dr. Fahed Halal, Division of Medical Genetics, Montreal Children’s Hospital, 2300 ”upper Street, Montreal, Quebec, Canada H3H 1P3.
0 1990 Wiley-Liss, Inc.
sis and rectovaginal fistula; his first wife had 2 early miscarriages. The current pregnancy was complicated by frequent contractions from the 6th month until delivery for which the mother received Ventolinm. The last ultrasound study during pregnancy showed polyhydramnios and evidence of small bowel obstruction. Spontaneous delivery occurred at 34 weeks. Birth measurements were weight, 1,720 g; length, 42 cm; and occipitofrontal circumference (OFC), 28.5 cm. Apgar scores were 9 at one and 5 minutes. At birth the child was noted to have ventricular septal defect (VSD),bilateral grade II/IV vesicoureteral reflux with normal kidneys, and duodenal atresia; the latter was surgically repaired in the neonatal period. At 19 mos, her measurements were weight, 5,450 g (
Brief Clinical Report Ring Chromosome 4 in a Child With Duodenal Atresia Fahed Halal and Michel Vekemans Division of Medical Genetics, Montreal Children’s Hospital, McGill University (F.H., M.V.) and Department of Pediatrics (F.H.), H6pital Notre-Dame and H6pital Ste-Justine, Universite de Montrkal, Montreal, Quebec, Canada We report on a 19-month-old girl with ring chromosome 4 and a multiple congenital anomaly syndrome. The clinical and cytogenetic findings are compared with those of previous cases in whom the breakpoints in ring chromosome 4 are known.
KEY WORDS: growth retardation, microcephaly, ventricular septal defect,psychomotor retardation INTRODUCTION Only a few patients have been reported t o have a ring 4 chromosome, and most were described before chromosome banding studies were available [Carter et al., 1969; Dallaire, 1969; Faed et al., 1969; Hecht, 1969; Bobrow et al., 1971; Surana et al., 1971; Bofinger et al., 19731. In those who have been described recently and have had chromosome banding studies, there seem to be differences in the amount of deleted genetic material [Niss and Passarge, 1975; Chavin-Colin et al., 1977; Fraisse et al., 1977; McDermott et al., 1977; Perez-Castillo and Abrisqueta, 1977; del Mazo et al., 1978; Finley et al., 1981; Gutkowska et al., 1985; Kosztolanyi, 1985; Fryns et al., 19881. We report on a child with ring chromosome 4 and multiple congenital anomalies. The clinical and cytogenetic findings are compared with those of previous cases in whom the breakpoints in ring chromosome4 are known. CLINICAL REPORT The patient was the first child of a 47-yr-oldfather and a 24-yr-old mother; the first pregnancy ended in an early miscarriage. From a previous marriage, the father had 2 children, a normal boy, and a girl with anal steno-
Received for publication September 20, 1989; revision received January 2, 1990. Address reprint requests to Dr. Fahed Halal, Division of Medical Genetics, Montreal Children’s Hospital, 2300 ”upper Street, Montreal, Quebec, Canada H3H 1P3.
0 1990 Wiley-Liss, Inc.
sis and rectovaginal fistula; his first wife had 2 early miscarriages. The current pregnancy was complicated by frequent contractions from the 6th month until delivery for which the mother received Ventolinm. The last ultrasound study during pregnancy showed polyhydramnios and evidence of small bowel obstruction. Spontaneous delivery occurred at 34 weeks. Birth measurements were weight, 1,720 g; length, 42 cm; and occipitofrontal circumference (OFC), 28.5 cm. Apgar scores were 9 at one and 5 minutes. At birth the child was noted to have ventricular septal defect (VSD),bilateral grade II/IV vesicoureteral reflux with normal kidneys, and duodenal atresia; the latter was surgically repaired in the neonatal period. At 19 mos, her measurements were weight, 5,450 g (
