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48,XYYY: A Rare Case Report

AS Sabnis
AS Sabnis
 and 
D Bhusare
D Bhusare
   | Jun 05, 2022
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Article Category: Case Report
Published Online: Jun 05, 2022
Page range: 103 - 106
DOI: https://doi.org/10.2478/bjmg-2021-0029
Keywords
© 2021 AS Sabnis et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Year Author name Condition Age of patient Clinical features
1967 D Cox[7] Mos 45,X/48,XYYY 4 Pseudo hermaphrodite, Cryptorchidism on left side, uterus with blindly ending fallopian tube
1993 Teyssier M [13] Mos 46,XY/48,XYYY 37 Obese, dysplasia of right hip, MR, aggressiveness
1995 James C [15] Mos46, XY/47,XYY/48,XYYY 3 Bilateral radioulnar synostosis, minor facial anomalies and mild intellectual delay.
2002 Fox JE[16] Mos45,X/46,XY/48,XYYY infant Ambiguous 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.
2020 Present case 48,XYYY FISH-mosaic XYYY-73%, XYY-7% X-13%, XY 7% 4 Hypospadias And Cryptorchidism On Right Side, Aggressiveness

shows details of pure XYYY

Year Author name Condition Age Clinical features
1965 Townes PL[6] 48,XYYY 5 Recurrent respiratory infection. Inguinal hernia, right ventricular hypertrophy, pulmonary stenosis
1972 Schoepfllin G S [4] 48,XYYY 9 Aggressiveness, impulsiveness, uncurved little finger of both hands
1973 Hunter H[5] 48,XYYY 53 Boastful, friendless, loud voiced, argumentativeness
1988 Hori N[10] 48,XYYY Adult Lack of sexual desire, tall, incurved little finger on both hands, small testes
1992 Mazauric Stuker[12] 48,XYYY 33 Grand 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.
1994 Stein A[14] 48,XYYY 19 Dysmorphism, MR, Problem in psychological functioning
2002 Venkataraman G[17] 48,XYYY 13 wk fetus Post ICSI pregnancy
2018 Maryam Abedi [18] 48,XYYY 32 teeth dysmorphology, history of respiratory disease, low total body hair, long length of fingers and toes, partial deformity of the joints and nails,
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