BHATNAGARAND MITRA : SOLITARYSIMPLERENAL CYSTS Simple renal cysts in a child. J Pediatr

Surg 1976; 11 : 117-119. 4.

5.

6.

DeWeerd JH, Simon HB. Simple renal cysts in children : Review of literature and report of 5 cases. J Urol 1956; 75 : 912921. Babka JC, Cohen MS, Sode J. Solitary intra-renal cyst causing hypertension. N Engl JMed 1974; 291 : 343-344. Ravden MI, Zuckerman HL, Kay CJ

759

et al. Evaluation of solitary simple renal cysts in children. J Urol 1980; 124 : 904906. 7. Bartholomew TH, Slovis TL, Kroovand RL et al. Sonographic evaluation and management of simple renal cysts in children. J Urol 1980; 123 : 732-736. Gordon RL, Pollack HM, Popky GL et al. Simple serous cysts of the kidney in children. Radiology 1979; 131 : 357.

Pericentric Inversion in Homologues of Chromosome 9 T. Sudha and S. Jayam Genetic Laboratory, Down's Research Society, Vijaya Hospital, Vadapalani, Madras Pericentric inversion of chromosome 9 in hcterozygous condition is a commonly observed structural" variation in the human population. It is reported to have no phenotypic effect or may sometimes be associated with clinical manifestationJ -3 In most cases this is transmitted as a dominant character, since it is not known to result in deleterious consequences. 4 This paper describes a rare instance of pericentric inversion in both the homologues of chromosome 9 observed in a female child with labial adhesion. In literature, five individuals have been reported with homozygous inv (9) having different phenotypes. 4-7 CASE REPORT The female child (1V2 years) was referred for chromosomal analysis due to the adherent labia minora. The line of adhesion was firm and thick. Labia majora was well formed and urethra and clitoris present. The ultra-

sonographic report revealed uterus; 2.6 x 0.7 cm., right ovary : 1.2 x 0.6 cm., left ovary : 1.0 x 0.6 cm. giving asn impression of norreal uterus and ovaries. The child was active and intelligent. F a m i l y history. Proband was the only child of.a consanguineously married couple (first cousin once removed, Figure 1). Instances of deaf mutes, blood cancer and fetal loss were reported in some of the family members (Figure 1).

Cytogenetic study. Leucocyte cultures were established ~ and G-banded 9 metaphases were analysed. C-banding was carried out to confirm the variation in tile heterochromatic regionJ ~ Cytogenetic analysis o f the proband revealed inversion 9 homozyosity and the karyotype was 46 XX, inv (9) ( p l l q l 3 ) (Figure 2). C-banded metaphases confirmed the pericentric inversion (Figure 3). This inversion was found to be inherited from her parents who had inv (9) in heterozygous condition.

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Vol. 59, No. 6

&

l

"Be

F ~)

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46,XX,tnv(9)lptlq131tpllqt3)

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Fig. I. Pedigree showing the transmission of pericentric inversion of chromosome 9 leading to inversion in the homologues. Further investigations of ten other family members showed tile anomaly in five of them with no phenotypic abnormalities (Figure 1) and revealed the common origin of inv (9).

DISCUSSION Structural rearrangement like pericentric inversion ,are common in chromosomes 9. This is a dominant trail and occurs as a relatively common feature in the population. The anomaly is associated with congenital malformation and reproductive losses. There are only few reports on inversion 9 in homozygous condition. 47 However, tile occurrence of inv (9) in both the homologues

with labial adkesion has not been recorded in the literature. Labial adhesion is a simple condition not uncommon in young girls. In this the labia miuora become adherent to each olher. Published details on pericentric inversions 9 (homozygous) are detailed in Table 1. Except in the patient described by Sakagami and Yoshida 7 file homozygous condition of inv (9) was a result of consanguineous marriages in the parents, including tile present one. This anomaly has been found to be associated with ambiguious genitalia, ophlhalmological abnormalities and psychomotor retardation (Table 1). There are also instances of individuals with this anomaly exhibiting normal phenotype.

SUDHA AND JAYAM : PERICENTRIC INVERSION IN HOMOLOGUES OF CHROMOSOME 9

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B

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P

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P~ io.nt Fig. 2. Partial G-banded karyotype A. Diagram showing the break points in inv (9) (pllq13) B. Origin of inv (9) homozygosity in the patient from mother and father. Arrow - inv (9) TABLE 1. The Inversion of Chromosomes Reported in the Literature and the Clinical Features Associated9 Reference

Sex

Consanguinity

Associated problem

Wahrman et a13

F

+

Normal

De La Chapelle et al.4

F

+

Mental and physical retardation and hyper glycinemia

Vine et aP

M

+

Ambiguous genitalia high glycine concentraction, mental retardation -proband's father with this variation was phenotypically normal

Sakagami and Yoshida7

M

Ophthalmological abnormalities and psychomotor retardation

W a h r m a n et al. 5 recorded pericentric inversion in chromosome 9 h o m o z y g o s i t y in a 14 year old normal female and her half sister-a case of primary amenorrhoea had inv (9) in heterozygous condition. Their father [46, XY, inv (9)] suffered from arteriosclerotic heart disease. A m b i g u o u s genitalia was recorded in yet another case with inversion 8 (9) homozygote. Similar clinical features were observed in siblings. 6 Cleftlip and palate was seen along with inv (9) in heterozygous form, where as his brother [46, XY, inv (9), inv (9)] was reported to have mental and physical retardation. 4 In the case described by Sakagami and Yoshida 7 with this anomaly, abnormalities o f eye and other parts of the body were noticed and the mother had anomaly in 1;oth the thumbs. However, in the present case, except the proband with adhesion o f labia, others who were heterozygous for inv (9) showed no

762

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Fig. 3. C-banded metaphase of the proband showing pericentric inversion in both the homologues of chromosome 9, phenotypic abnormalities. Other anomalies observed in the family members were leukemia, deafness and dumbness and abortions, however, cytogenetic analysis was not carried out in these individuals. Mental and growth retardation were reported generally in some cases of inv (9) m3 which was not observed even when the anomaly was present in homozygous condition as in the present case and also in the cases of Wallnnan et al, s and Vine et al. 6 A few investigators have observed this variation [inv (9) homozygote] with mental and physical retardation. 4,6,7 The genes located on chromosome 9 at 9q12 are reported to be associated with cytoplasmic membrane, exhibiting fragile site (5 azacytedine type)? 4 The genes present at pl 1 q13 regions of chromosome 9 are not known and the significance of this pericentric inversion in homologous chrosome and

its association with the clinical features needs to be studied. Anomalies in the external genitalia were observed by Vine et al. ~ and also in the present case. The X chromosomes appear normal and there seemed to be no definite correlation with homozygous inv (9) condition with phenotypic anomaly (labial adhesion). The patient was advised to undergo separation of the labia and this was accomplished using a well lubricated probe. ACKNOWLEDGEMENT

The authors acknowledge, the Down's Research Society (India) and Rotary Club of Madras South-West for permitting this work to be published. Thanks are also due to Mr. B. Viswanatha Reddy and Mrs. Rekha Ramachandran for their encouragement and support, and to Professor P.M. Gopinath and Professor Takeshi Seno for their help.

SUDHA AND JAYAM : PERICENTRICINVERSIONIN HOMOLOGUESOF CHROMOSOME9

REFERENCES 1.

Boue J, Taillemite JL, Hazael - Massieux P et al. Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families. Hum Genet 1975; 30 : 217-224. 2. Hansmann I. Structural variability of human chromosome 9 in relation to its evolution. Hum Genet 1976; 31 : 247-262. 3. Tibviletti MG, Simoni G, Terzoli GL et al. Pericentric inversion of chromosome 9 in couples with repeated spontaneous abortion. Acta Eur Fertil 1981; 12 : 245248. 4. De La Chapella A, Schroder J, Stenstrank K et al. Pericentric inversions of human chromosome 9 and 10. Am J Hum Genet 1974; 26 : 746-766. 5. Wahrman J, Goitein R, Atidia J, Cohen T. Pericentric inversions of human chromosome 9 in two families. Cytogenetics 1972; 11 : 132-144. 6. Vine DT, Yarkoni S, Cohen MM. Inversion homozygosity of chromosome no. 9 in a highly inbred kindred. Am J Hum Genet 1976; 28 : 203-207.

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7.

Sakagami K, Yoshida A. A case of inverted chromosome no. 9 (homozygote). Folia Opthalmol Jpn 1988; 39 : 348-353. 8. Hungerford DA. Le.ukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KC1. Stain Tech 1965; 40 : 333-338. 9. Seabright M. A rapid banding technique for human chromosome. Lancet 1971; 2 : 971972. 10. Sumner AT. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 1972; 75 : 304-306. 11. Sudha T. Contribution of genetic, cyto-

genetic and consanguinity to reproductive loss. P h . D . thesis, Madras University 1988. Fujita H. Anomaly in C bands of chromosomes. IGAKU NO AYUMI 1982; 121 : 629 - 634. 13. Kodama Y. Cytogenetic and dermatoglyphic studies on severely handicapped patients in an institution. Acta Med Okayama 1982; 36 : 383-397. 14. Klinger HP. Human gene mapping 10. Cytogenet Cell Genet 1989; 51. 12.

Effect of Feeding Infant Formula Containing Lactulose on Intestinal Flora in the Infant R. Nagendra, S. Vishwanatha, S. Venkat Rao and S.R. Ravish Department of Nutrition & Food Safety, Central Food Technological Research Institute, Mysore and *Holdsworth Memorial Hospital, Mysore

It is well known that infants fed on breast milk are better protected from diarrheal disorders due to the presence of bifidogenic substances in the milk. Many workers ~,2have shown that bifidobacterial flora are predomi-

nant in file stools of babies fed breast milk, while colifonns predominate in those bottlefed. Preponderance of bifidobacteria in the intestine results in m a n y beneficial effects to the host, such as suppression of growth of