Monosomy 6q1: Syndrome delineation

Susan Sheley Romie; James K. Hartsfield; Maxine J. Sutcliffe; Doris P. Dumont; Boris G. Kousseff

doi:10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V

Monosomy 6q1: Syndrome delineation

Susan Sheley Romie, James K. Hartsfield, Maxine J. Sutcliffe, Doris P. Dumont, Boris G. Kousseff

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

12 Scopus citations

Abstract

We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies.

Original language	English
Pages (from-to)	105-108
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	62
Issue number	2
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V
State	Published - Mar 15 1996

Keywords

chromosome 6
dental fusion
gingival hypertrophy
interstitial deletion
mental retardation
multiple congenital anomalies

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V

Cite this

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title = "Monosomy 6q1: Syndrome delineation",

abstract = "We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies.",

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author = "Romie, {Susan Sheley} and Hartsfield, {James K.} and Sutcliffe, {Maxine J.} and Dumont, {Doris P.} and Kousseff, {Boris G.}",

year = "1996",

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T2 - Syndrome delineation

AU - Romie, Susan Sheley

AU - Hartsfield, James K.

AU - Sutcliffe, Maxine J.

AU - Dumont, Doris P.

AU - Kousseff, Boris G.

PY - 1996/3/15

Y1 - 1996/3/15

N2 - We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies.

AB - We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies.

KW - chromosome 6

KW - dental fusion

KW - gingival hypertrophy

KW - interstitial deletion

KW - mental retardation

KW - multiple congenital anomalies

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Monosomy 6q1: Syndrome delineation

Abstract

Keywords

ASJC Scopus subject areas

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