Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

HY Kroes; JHAM Tuerlings; R Hordijk; NRP Folkers; LP ten Kate

doi:10.1136/jmg.31.2.156

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

HY Kroes^*, JHAM Tuerlings, R Hordijk, NRP Folkers, LP ten Kate

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

23 Citations (Scopus)

Abstract

We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible.

Original language	English
Pages (from-to)	156-158
Number of pages	3
Journal	Journal of Medical Genetics
Volume	31
Issue number	2
DOIs	https://doi.org/10.1136/jmg.31.2.156
Publication status	Published - Feb-1994

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LONG ARM

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title = "Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)",

abstract = "We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible.",

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T1 - Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

AU - Kroes, HY

AU - Tuerlings, JHAM

AU - Hordijk, R

AU - Folkers, NRP

AU - ten Kate, LP

PY - 1994/2

Y1 - 1994/2

N2 - We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible.

AB - We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible.

KW - LONG ARM

U2 - 10.1136/jmg.31.2.156

DO - 10.1136/jmg.31.2.156

M3 - Comment/Letter to the editor

SN - 0022-2593

VL - 31

SP - 156

EP - 158

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 2

ER -

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

Abstract

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