Literature DB >> 36249521

48,XYYY: A Rare Case Report.

A S Sabnis1, D Bhusare2.   

Abstract

A case study of a 4 year old child with hypospadias and cryptorchidism on the right side is presented. Combined analysis by Karyotype and FISH showed a mosaic pattern of 48, XYYY (73%); 47,XYY (7%); 46,XY (7%) and 45,X (13%). Apart from hypospadias and cryptorchidism there were no significant phenotypic changes observed. Inheritance of this clonal abnormality was ruled out as the karyotype patterns of the child's father and brother both showed a normal karyotype. For further management, genetic counseling, and the correction of hypospadias and the undescended testis were recommended.
© 2021 AS Sabnis et al., published by Sciendo.

Entities:  

Keywords:  Modified Klinefelter syndrome; Supernumerary Y chromosome; Y chromosome

Year:  2022        PMID： 36249521      PMCID： PMC9524172          DOI： 10.2478/bjmg-2021-0029

Source DB:  PubMed          Journal:  Balkan J Med Genet        ISSN： 1311-0160            Impact factor:   0.810


  18 in total

1.  Triple-Y syndrome following ICSI treatment in a couple with normal chromosomes: case report.

Authors:  Geetha Venkataraman; Ian Craft
Journal:  Hum Reprod       Date:  2002-10       Impact factor: 6.918

2.  A PATIENT WITH 48 CHROMOSOMES (XYYY).

Authors:  P L TOWNES; N A ZIEGLER; L W LENHARD
Journal:  Lancet       Date:  1965-05-15       Impact factor: 79.321

3.  A male subject with 3 Y chromosomes (48, XYYY): a case report.

Authors:  N Hori; T Kato; Y Sugimura; K Tajima; H Tochigi; J Kawamura
Journal:  J Urol       Date:  1988-05       Impact factor: 7.450

4.  48,XYYY: a new syndrome?

Authors:  G S Schoepflin; W R Centerwall
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

5.  An adult male with XYYY sex chromosomes.

Authors:  M A Ridler; R Lax; M J Mitchell; A Shapiro; P Saldaña-Garcia
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

6.  Antenatal diagnosis of 45,X/48,XYYY.

Authors:  C R Bryke; M J Mahoney; T L Yang-Feng
Journal:  Am J Med Genet       Date:  1989-10

7.  46,XY/48,XYYY mosaicism case report and review of the literature.

Authors:  M Teyssier; G Pousset
Journal:  Genet Couns       Date:  1994

8.  Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men.

Authors:  J Gekas; F Thepot; C Turleau; J P Siffroi; J P Dadoune; S Briault; M Rio; G Bourouillou; F Carré-Pigeon; R Wasels; B Benzacken
Journal:  Hum Reprod       Date:  2001-01       Impact factor: 6.918

9.  46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.

Authors:  C James; L Robson; J Jackson; A Smith
Journal:  Am J Med Genet       Date:  1995-05-08

10.  Rare 48, XYYY syndrome: case report and review of the literature.

Authors:  Maryam Abedi; Arash Salmaninejad; Ebrahim Sakhinia
Journal:  Clin Case Rep       Date:  2017-12-07
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