Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature

M. F. Schwartz; S. Kaffe; S. Wallace; R. J. Desnick

doi:10.1111/j.1399-0004.1984.tb01106.x

Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature

M. F. Schwartz
, S. Kaffe
, S. Wallace
, R. J. Desnick

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

26 Scopus citations

Abstract

Partial monosomy of 6q resulting from an interstitial deletion of bands q16 → q22 was found in a 12‐year‐old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.

Original language	English
Pages (from-to)	574-578
Number of pages	5
Journal	Clinical Genetics
Volume	26
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.1984.tb01106.x
State	Published - Dec 1984
Externally published	Yes

Keywords

Chromosome 6
deletion syndrome
developmental delay

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10.1111/j.1399-0004.1984.tb01106.x

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title = "Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature",

abstract = "Partial monosomy of 6q resulting from an interstitial deletion of bands q16 → q22 was found in a 12‐year‐old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.",

keywords = "Chromosome 6, deletion syndrome, developmental delay",

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year = "1984",

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T2 - case report and review of the literature

AU - Schwartz, M. F.

AU - Kaffe, S.

AU - Wallace, S.

AU - Desnick, R. J.

PY - 1984/12

Y1 - 1984/12

N2 - Partial monosomy of 6q resulting from an interstitial deletion of bands q16 → q22 was found in a 12‐year‐old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.

AB - Partial monosomy of 6q resulting from an interstitial deletion of bands q16 → q22 was found in a 12‐year‐old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.

KW - Chromosome 6

KW - deletion syndrome

KW - developmental delay

UR - https://www.scopus.com/pages/publications/0021673508

U2 - 10.1111/j.1399-0004.1984.tb01106.x

DO - 10.1111/j.1399-0004.1984.tb01106.x

M3 - Article

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AN - SCOPUS:0021673508

SN - 0009-9163

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JO - Clinical Genetics

JF - Clinical Genetics

IS - 6

ER -

Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature

Abstract

Keywords

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