49,XXXXY

A distinct phenotype. Three new cases and review

Jennifer Peet, David Weaver, Gail Vance

Research output: Contribution to journalArticle

62 Citations (Scopus)

Abstract

Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a ('Klinefelter variant.' Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management.

Original languageEnglish
Pages (from-to)420-424
Number of pages5
JournalJournal of Medical Genetics
Volume35
Issue number5
StatePublished - 1998

Fingerprint

Klinefelter Syndrome
Phenotype
Hypogonadism
Congenital Heart Defects
Intellectual Disability

Keywords

  • Aneuploidy
  • Klinefelter syndrome
  • Sex chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

49,XXXXY : A distinct phenotype. Three new cases and review. / Peet, Jennifer; Weaver, David; Vance, Gail.

In: Journal of Medical Genetics, Vol. 35, No. 5, 1998, p. 420-424.

Research output: Contribution to journalArticle

@article{7b7ac194613a45e8a7a995040eeb6835,
title = "49,XXXXY: A distinct phenotype. Three new cases and review",
abstract = "Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a ('Klinefelter variant.' Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management.",
keywords = "Aneuploidy, Klinefelter syndrome, Sex chromosome",
author = "Jennifer Peet and David Weaver and Gail Vance",
year = "1998",
language = "English",
volume = "35",
pages = "420--424",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
number = "5",

}

TY - JOUR

T1 - 49,XXXXY

T2 - A distinct phenotype. Three new cases and review

AU - Peet, Jennifer

AU - Weaver, David

AU - Vance, Gail

PY - 1998

Y1 - 1998

N2 - Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a ('Klinefelter variant.' Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management.

AB - Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a ('Klinefelter variant.' Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management.

KW - Aneuploidy

KW - Klinefelter syndrome

KW - Sex chromosome

UR - http://www.scopus.com/inward/record.url?scp=0031899204&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031899204&partnerID=8YFLogxK

M3 - Article

VL - 35

SP - 420

EP - 424

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 5

ER -