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48 XXXY Variant of Klinefelter Syndrome

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48 XXXY Variant of Klinefelter Syndrome BRIEF REPORTS G.S. Medical College and K.E.M. Hospi- 1986, pp 104-132. tal, Bombay for granting permission to 3. Robinson RCV. Congenital syphilis. publish this case report. Arch Derm 1969, 99: 599-610. REFERENCES 4. Fiumara NJ, Lessells S. Manifestations of late congenital syphilis. Arch Derm 1. Alford CA. Chronic congenital and 1970,102: 78-83. perinatal infections. In: Neonatology, 5. Caffey J. Infections. In: Pediatric X-ray Pathophysiology and Management of Diagnosis, Vol 2, 7th edn. Chicago, the Newborn, 3rd edn. Ed. Avery GB. Philadelphia, J.B. Lippincott Co, 1987, Year Book Medical Publishers, 1978, pp 874-916. pp 1407-1442. 6. King A, Claude M, Rodin P. Syphilis. 2. King A, Claude M, Rodin P. Congeni- In: Veneral Diseases, 4th edn. tal syphilis. In: Veneral Diseases, 4th Tonbridge, Whitefrairs Press, 1986, pp edn. Tonbridge, Whitefrairs Press, 1-14. 48 XXXY Variant of Klinefelter remaining 20% chromosomal variants Syndrome including mosaicism is seen. Among the variants, 48 XXXY is the commonest ob- served^. The most significant effect of G.L. Gupte the additional X chromosomes on the S.V. Kotvaliwale phenotype is an increase in somatic mal- P.V. Mahajan formations and mental retardation(2). A.S. Kher Dysmorphic features are very mild in 47 S.P. Kanade XXY, but are multiple and widespread 8.A. Bharucha in 49 XXXXY while 48 XXXY represents the intermediate level of the spec- trum(2,3). The abnormality is rare and In 80% of the cases, the karyotype in features overlap with many chromo- Klinefelter syndrome is 47 XXY. In the somal syndromes, notably Down's syn- drome. This communication documents From the Genetic Clinic, Department of Pediat- 48 XXY variant of Klinefelter syndrome. rics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Bombay 400 012; and Case Report Genetic Diagnostic Centre, 203, Bombay An 11 month old boy born of a non- A/C Market, Bombay 400 034. consanguineous marriage was referred Reprint requests: Dr. Burjor A. Bharucha, for delayed milestones and blindness. Professor of Pediatrics, K.E.M. Hospital, Paternal and maternal ages were 25 and Parel, Bombay 400 012. 21 years, respectively. A detailed histo- Received for publication: November 30,1992; ry including family history of infertility, Accepted: November 4,1994 mental handicap, past abortions and 798 INDIAN PEDIATRICS VOLUME 32-JULY1995 still births was recorded which was crease, clinodacryly, low dermal ridge noncontributory. Height and weight count on hands, small penis, small un- percentiles, upper segment to lower seg- descended testes and a hypoplastic ment ratio, hand and foot lengths, inter- scrotum. Developmental age was 6 pupillary distance, internipple distance, weeks. Fundii were normal. BERA did stretched penile length and testicular not reveal any hearing loss. X-ray of the length were recorded. External eye ex- hands demonstrated short middle pha- amination, fundoscopy, brainstem lanx of the fifth finger and X-ray of the evoked response audiometry (BERA), pelvis revealed coxa valga. There was skeletal X-rays, ultra sonography of the no evidence of radioulnar synostosis or abdomen, buccal smear for Barr body, elbow dysplasia. Ultra sonography of karyotype of the peripheral blood the abdomen revealed small testes in the leucocytes and dermatoglyphics were inguinal canals. done. Developmental age assessment Two X chromatin masses were ob- was done by the Clinical Psychologist. served in the interphase nuclei on the buccal smear. Karyotype revealed a uni- He had delayed milestones, short form pattern of 48 XXXY in all the stature, hypoplasia of the supraorbital metaphases (Fig. 1). ridges, bushy eyebrows, medial flare of the eyebrows, hypertelorism, inner Discussion epicanthal folds, upward slant to the palpebral fissures, left divergent squint, The dysmorphic features seen in this low set ears, micrognathia, high arched child overlap with those of Cornelia palate, thin upper lip, micromelia of de Lange, mosaic Down syndrome, 3 hands and the feet, bilateral simian duplication deficiency syndrome and Fig. 1. Presence of three X chromosomes and single Y chromosome indicated by arrows 799 BRIEF REPORTS Klinefelter syndrome. Dysmorphic fea- ulna, clinodactyly, coxa valga and tures common with Cornelia de Lange abnormalities of feet and toes. These syndrome were short stature, abnormalities are similar in XXXY and microcephaly, bushy eyebrows, high XXXXY, but are much common in the arched palate, micrognathia, low set latter. Radioulnar synostosis or other ears, micromelia of the hands and the abnormalities of the radius and ulna feet, simian crease, undescended testes were not observed in this patient; an and small penis. However, long curly otherwise frequent finding in many eyebrows with synophrys, hypoplastic Poly-X syndromes(3). While reporting nipples and characteristic lips and on two cases of 48 XXXY, Ferrier et al. mouth, seen in all cases of de Lange commented on the inability to assign a syndrome were not observed in our pa- specific set of dysmorphic criteria(5). tient(3). Since many of the phenotypic The features seem to be intermediate in characteristics seen in this patient and in severity between XXY and XXXXY, the de Lange syndrome are also seen in which is in keeping with the view that 3 duplication deficiency syndrome every extra X chromosome imposes (duplication of the q 21-25 deletion p25- greater malformation(3,5). pter)(3,4), it was considered in the dif- The most likely explanation for 48 ferential diagnosis. Mental and develop- XXXY is non-disjunction occurring at mental retardation is a feature of both both the first and second meiotic divi- these conditions. Dysmorphic features sions of oogenesis. The result is an XXX in common with mosaic 21 trisomy ovum which is then fertilized by a Y were short stature, microcephaly with bearing sperm. The absence of another upslanting palpebral fissures, epicanthal cell line effectively rules out post- folds, low set ears, clinodactyly, simian zygotic non-disjunction. The three X crease and small penis. Many poly ,X chromosomes have been proved to be of syndromes have facies impressively maternal origin by the parental study of resembling Down syndrome(3). Xg blood types(6). The risk of recur- Dysmorphic features in common with rence for next pregnancy is not Klinefelter syndrome were upper to increased significantly. lower segment ratio, small penis, small testes and clinodactyly of fifth finger. Acknowledgement The unusual features observed in The authors wish to thank Dr. (Mrs) this patient, but not reported in litera- P.M. Pai, Dean, Seth G.S. Medical ture were bushy eyebrows, medial flare College and K.E.M. Hospital for grant- of the eyebrows, micrognathia, high ing us permission to publish this report. arched palate and thin upper lip. Somat- ic malformations reported in both XXXY REFERENCES and XXXXY include facial asymmetry 1. De Grouchy J, Tourleau G. Clinical At due to abnormalities of the skull and las of Human Chromosomes, 2nd edn. jaw, epicanthus, hypertelorism, pro- New York, Wiley Medical Publica- truding lip, short neck, abnormal tions, 1984, pp 392-395. elbows due to radio ulnar synostosis, 2. Emery AH, Rimoin LD. Principles and other abnormalities of the radius and Practice of Medical Genetics, Vol 1,1st 800 INDIAN PEDIATRICS VOLUME 32-JULY 1995 edn. London, Churchill Livingstone, 5. FerrierPE, FerrierSA, Pescia G. XXXY 1983, pp 208-209. Klinefelter syndrome in childhood. Amer J Dis Child 1974, 127: 104- 3. Jones KL. Smith's Recognizable Pat 105. terns of Human Malformation, 4th edn. Philadelphia, W.B. Saunders 6. Greenstein RM, Harris DJ, Luzatti L, Company, 1988, pp 66-72. Cann HM. Cytogenetic analysis of a boy with XXXY syndrome-origin of 4. Goodman RM, Gorlin RJ. Atlas of the the X chromosome. Pediatrics 1970, 45: Face in Genetic Disorders, 2nd edn. St 677-686. Louis, C.V. Mosby Company, 1977, pp 404-405. 801 .
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