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 voor dit werk

Onderzoeksoutput › Academic › peer review

23 Citaten (Scopus)

Samenvatting

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.

Originele taal-2	English
Pagina's (van-tot)	156-158
Aantal pagina's	3
Tijdschrift	Journal of Medical Genetics
Volume	31
Nummer van het tijdschrift	2
DOI's	https://doi.org/10.1136/jmg.31.2.156
Status	Published - feb.-1994

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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.",

keywords = "LONG ARM",

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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)

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