18q- and 18q+ mosaicism in a mentally retarded boy

M. G.E.M. Ausems; S. L. Bhola; C. A. Post-Blok; R. C.M. Hennekam; H. F. De France

doi:10.1002/ajmg.1320530317

18q- and 18q+ mosaicism in a mentally retarded boy

M. G.E.M. Ausems^*
, S. L. Bhola
, C. A. Post-Blok
, R. C.M. Hennekam
, H. F. De France

^*Corresponding author for this work

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

9 Citations (Scopus)

Abstract

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY,del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.

Original language	English
Pages (from-to)	296-299
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	53
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320530317
Publication status	Published - 1994

Keywords

18q- syndrome
FISH
isopseudodicentric chromosome 18
mosaicism

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title = "18q- and 18q+ mosaicism in a mentally retarded boy",

abstract = "A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY,del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.",

keywords = "18q- syndrome, FISH, isopseudodicentric chromosome 18, mosaicism",

author = "Ausems, \{M. G.E.M.\} and Bhola, \{S. L.\} and Post-Blok, \{C. A.\} and Hennekam, \{R. C.M.\} and \{De France\}, \{H. F.\}",

year = "1994",

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T1 - 18q- and 18q+ mosaicism in a mentally retarded boy

AU - Ausems, M. G.E.M.

AU - Bhola, S. L.

AU - Post-Blok, C. A.

AU - Hennekam, R. C.M.

AU - De France, H. F.

PY - 1994

Y1 - 1994

N2 - A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY,del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.

AB - A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY,del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.

KW - 18q- syndrome

KW - FISH

KW - isopseudodicentric chromosome 18

KW - mosaicism

UR - https://www.scopus.com/pages/publications/0028073111

U2 - 10.1002/ajmg.1320530317

DO - 10.1002/ajmg.1320530317

M3 - Article

C2 - 7856666

AN - SCOPUS:0028073111

SN - 0148-7299

VL - 53

SP - 296

EP - 299

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 3

ER -

18q- and 18q+ mosaicism in a mentally retarded boy

Abstract

Keywords

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