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Partial Monosomy 7q Syndrome Due to Distal Interstitial Deletion

Overview
Journal Hum Genet
Specialty Genetics
Date 1981 Jan 1
PMID 7228036
Citations 7
Authors
R Stallard
R C Juberg
Affiliations
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Abstract

A female infant was ascertained at 10 weeks because of failure to thrive and a peculiar cry and was found to have few morphologic variants. Her karyotype was 46,XX,del(7)(q3105::q3405). The parental karyotypes were normal. At one year she manifested physical retardation and development delay and required surgery for gastroesophageal incompetence. The phenotypic characteristics of this patient and those of six previously reported cases of 7q medial or distal interstitial deletion include many anomalies. Morphologic abnormalities of the head, ears, eyes, mouth, chest, hands, feet, and nerves combined with characteristics of birth weight, growth, and development define a detectable syndrome. An unusual cry may help in the recognition of this new syndrome.

Citing Articles

The contribution of 7q33 copy number variations for intellectual disability.

Lopes F, Torres F, Lynch S, Jorge A, Sousa S, Silva J Neurogenetics. 2017; 19(1):27-40.

PMID: 29260337 DOI: 10.1007/s10048-017-0533-5.

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome.

Dilzell K, Darcy D, Sum J, Wallerstein R Case Rep Genet. 2015; 2015:131852.

PMID: 26064708 PMC: 4433680. DOI: 10.1155/2015/131852.

Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

DAlessandro E, Ligas C, Lo Re M, Marcanio M, Gentile T, DEL PORTO G J Med Genet. 1994; 31(5):413-5.

PMID: 8064823 PMC: 1049877. DOI: 10.1136/jmg.31.5.413.

Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).

Abuelo D J Med Genet. 1982; 19(6):473-6.

PMID: 7154049 PMC: 1048969. DOI: 10.1136/jmg.19.6.473.

A case of partial 5q trisomy associated with partial 7q monosomy.

Hara S, Yamada T, Nakai H, Ohtani A, Mizuno K Br J Ophthalmol. 1986; 70(8):630-3.

PMID: 3741831 PMC: 1040786. DOI: 10.1136/bjo.70.8.630.

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