Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities

J. M. Hoovers; J. W. Oorthuys; M. de Visser

Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities

J. M. Hoovers, J. W. Oorthuys, M. de Visser

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Research output: Contribution to journal › Article › Academic › peer-review

4 Citations (Scopus)

Abstract

This report describes a non-retarded human male, mosaic for a 47,XY,+8 and a 48,XXYY cell line. The 47,XY,+8 cell line is present in approximately 70% of both lymphocytes and skin fibroblasts; 30% of the cells in both tissues have a 48,XXYY karyotype. Clinical abnormalities correspond mostly with the mosaic trisomy 8 syndrome

Original language	English
Pages (from-to)	446-449
Journal	Clinical genetics
Volume	35
Issue number	6
Publication status	Published - 1989

Cite this

@article{79cb71f640d8498d8e6114d5f6c336d5,

title = "Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities",

abstract = "This report describes a non-retarded human male, mosaic for a 47,XY,+8 and a 48,XXYY cell line. The 47,XY,+8 cell line is present in approximately 70% of both lymphocytes and skin fibroblasts; 30% of the cells in both tissues have a 48,XXYY karyotype. Clinical abnormalities correspond mostly with the mosaic trisomy 8 syndrome",

author = "Hoovers, {J. M.} and Oorthuys, {J. W.} and {de Visser}, M.",

year = "1989",

language = "English",

volume = "35",

pages = "446--449",

journal = "Clinical genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "6",

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TY - JOUR

T1 - Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities

AU - Hoovers, J. M.

AU - Oorthuys, J. W.

AU - de Visser, M.

PY - 1989

Y1 - 1989

N2 - This report describes a non-retarded human male, mosaic for a 47,XY,+8 and a 48,XXYY cell line. The 47,XY,+8 cell line is present in approximately 70% of both lymphocytes and skin fibroblasts; 30% of the cells in both tissues have a 48,XXYY karyotype. Clinical abnormalities correspond mostly with the mosaic trisomy 8 syndrome

AB - This report describes a non-retarded human male, mosaic for a 47,XY,+8 and a 48,XXYY cell line. The 47,XY,+8 cell line is present in approximately 70% of both lymphocytes and skin fibroblasts; 30% of the cells in both tissues have a 48,XXYY karyotype. Clinical abnormalities correspond mostly with the mosaic trisomy 8 syndrome

M3 - Article

C2 - 2736792

SN - 0009-9163

VL - 35

SP - 446

EP - 449

JO - Clinical genetics

JF - Clinical genetics

IS - 6

ER -