De novo 10q22 interstitial deletion

Lola Cook; David D. Weaver; James K. Hartsfield; Gail H. Vance

De novo 10q22 interstitial deletion

Lola Cook, David D. Weaver, James K. Hartsfield, Gail H. Vance

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

11 Scopus citations

Abstract

We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the first reported case of an interstitial deletion of 10q22.

Original language	English
Pages (from-to)	71-72
Number of pages	2
Journal	Journal of Medical Genetics
Volume	36
Issue number	1
State	Published - 1999

Keywords

Chromosome 10
Deletion 10q
Interstitial deletion
Multiple congenital anomaly (MCA) syndrome

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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title = "De novo 10q22 interstitial deletion",

abstract = "We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the first reported case of an interstitial deletion of 10q22.",

keywords = "Chromosome 10, Deletion 10q, Interstitial deletion, Multiple congenital anomaly (MCA) syndrome",

author = "Lola Cook and Weaver, {David D.} and Hartsfield, {James K.} and Vance, {Gail H.}",

year = "1999",

language = "English",

volume = "36",

pages = "71--72",

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TY - JOUR

T1 - De novo 10q22 interstitial deletion

AU - Cook, Lola

AU - Weaver, David D.

AU - Hartsfield, James K.

AU - Vance, Gail H.

PY - 1999

Y1 - 1999

N2 - We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the first reported case of an interstitial deletion of 10q22.

AB - We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the first reported case of an interstitial deletion of 10q22.

KW - Chromosome 10

KW - Deletion 10q

KW - Interstitial deletion

KW - Multiple congenital anomaly (MCA) syndrome

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UR - http://www.scopus.com/inward/citedby.url?scp=0032954028&partnerID=8YFLogxK

M3 - Article

C2 - 9950372

AN - SCOPUS:0032954028

SN - 0022-2593

VL - 36

SP - 71

EP - 72

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 1

ER -

De novo 10q22 interstitial deletion

Abstract

Keywords

ASJC Scopus subject areas

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