Partial deletion of the short arm of chromosome 3: further delineation of the 3p25 ‐ 3pter syndrome

R. M. Reifen; R. Gale; E. Kerem; Y. Armon; A. Brand; J. Dagan; G. Kohn

doi:10.1111/j.1399-0004.1986.tb00581.x

Partial deletion of the short arm of chromosome 3: further delineation of the 3p25 ‐ 3pter syndrome

R. M. Reifen, R. Gale^*, E. Kerem, Y. Armon, A. Brand, J. Dagan, G. Kohn

^*Corresponding author for this work

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

13 Scopus citations

Abstract

A male newborn with partial deletion of the short arm of chromosome 3 is described. The patient shares most of the features with the previously reported cases. In addition, cardiac, skeletal and gastrointestinal anomalies not previously reported are described. These characteristics may help in further delineation of the syndrome.

Original language	English
Pages (from-to)	127-130
Number of pages	4
Journal	Clinical Genetics
Volume	30
Issue number	2
DOIs	https://doi.org/10.1111/j.1399-0004.1986.tb00581.x
State	Published - Aug 1986
Externally published	Yes

Keywords

Congenital heart disease
chromosome 3
chromosome deletion
imperforate anus
multiple congenital malformations
partial monosomy 3p

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1111/j.1399-0004.1986.tb00581.x

Cite this

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title = "Partial deletion of the short arm of chromosome 3: further delineation of the 3p25 ‐ 3pter syndrome",

abstract = "A male newborn with partial deletion of the short arm of chromosome 3 is described. The patient shares most of the features with the previously reported cases. In addition, cardiac, skeletal and gastrointestinal anomalies not previously reported are described. These characteristics may help in further delineation of the syndrome.",

keywords = "Congenital heart disease, chromosome 3, chromosome deletion, imperforate anus, multiple congenital malformations, partial monosomy 3p",

author = "Reifen, {R. M.} and R. Gale and E. Kerem and Y. Armon and A. Brand and J. Dagan and G. Kohn",

year = "1986",

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T2 - further delineation of the 3p25 ‐ 3pter syndrome

AU - Reifen, R. M.

AU - Gale, R.

AU - Kerem, E.

AU - Armon, Y.

AU - Brand, A.

AU - Dagan, J.

AU - Kohn, G.

PY - 1986/8

Y1 - 1986/8

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AB - A male newborn with partial deletion of the short arm of chromosome 3 is described. The patient shares most of the features with the previously reported cases. In addition, cardiac, skeletal and gastrointestinal anomalies not previously reported are described. These characteristics may help in further delineation of the syndrome.

KW - Congenital heart disease

KW - chromosome 3

KW - chromosome deletion

KW - imperforate anus

KW - multiple congenital malformations

KW - partial monosomy 3p

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Partial deletion of the short arm of chromosome 3: further delineation of the 3p25 ‐ 3pter syndrome

Abstract

Keywords

UN SDGs

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