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By:
AS Sabnis and  D Bhusare  
Open Access
|Jun 2022

Figures & Tables

Figure 1

(1)- phenotype of proband. (2-a) ultrasonography (2-b) MRI shows absence of right testis and presence of right testis (arrow). (3-a) shows karyotype of proband, (3-b) shows metaphase spread of proband, (3-c, 3-d) shows karyotype of father and brother of proband. (4-a-d) shows FISH analysis. Green, orange, aqua signal shows X, Y & 18 chromosome respectively. (4-a)-XYYY pattern (73% cells), (4-b)-XYY pattern (7% cells), (4-c)- 1 X chromosome in each cell (13%), (4-d)- XY pattern in 7%.
(1)- phenotype of proband. (2-a) ultrasonography (2-b) MRI shows absence of right testis and presence of right testis (arrow). (3-a) shows karyotype of proband, (3-b) shows metaphase spread of proband, (3-c, 3-d) shows karyotype of father and brother of proband. (4-a-d) shows FISH analysis. Green, orange, aqua signal shows X, Y & 18 chromosome respectively. (4-a)-XYYY pattern (73% cells), (4-b)-XYY pattern (7% cells), (4-c)- 1 X chromosome in each cell (13%), (4-d)- XY pattern in 7%.

shows details of mosaic pattern of XYYY

YearAuthor nameConditionAge of patientClinical features
1967D Cox[7]Mos 45,X/48,XYYY4Pseudo hermaphrodite, Cryptorchidism on left side, uterus with blindly ending fallopian tube
1993Teyssier M [13]Mos 46,XY/48,XYYY37Obese, dysplasia of right hip, MR, aggressiveness
1995James C [15]Mos46, XY/47,XYY/48,XYYY3Bilateral radioulnar synostosis, minor facial anomalies and mild intellectual delay.
2002Fox JE[16]Mos45,X/46,XY/48,XYYYinfantAmbiguous genitalia, minor ear and eye anomalies and coarctation of the aorta with bicuspid aortic valve, bilateral fallopian tubes and a left infantile testis with epididymis.
2020Present case48,XYYY FISH-mosaic XYYY-73%, XYY-7% X-13%, XY 7%4Hypospadias And Cryptorchidism On Right Side, Aggressiveness

shows details of pure XYYY

YearAuthor nameConditionAgeClinical features
1965Townes PL[6]48,XYYY5Recurrent respiratory infection. Inguinal hernia, right ventricular hypertrophy, pulmonary stenosis
1972Schoepfllin G S [4]48,XYYY9Aggressiveness, impulsiveness, uncurved little finger of both hands
1973Hunter H[5]48,XYYY53Boastful, friendless, loud voiced, argumentativeness
1988Hori N[10]48,XYYYAdultLack of sexual desire, tall, incurved little finger on both hands, small testes
1992Mazauric Stuker[12]48,XYYY33Grand mal epilepsy, hollow feet and onychocryptosis of the toes, spinal ataxia of the right side, radioulnar synostosis of the left elbow, and reduced mental capacity.
1994Stein A[14]48,XYYY19Dysmorphism, MR, Problem in psychological functioning
2002Venkataraman G[17]48,XYYY13 wk fetusPost ICSI pregnancy
2018Maryam Abedi [18]48,XYYY32teeth dysmorphology, history of respiratory disease, low total body hair, long length of fingers and toes, partial deformity of the joints and nails,
Language: English
Page range: 103 - 106
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2022 AS Sabnis, D Bhusare, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.