Mother and son with deletion of 3p25-pter

J. Tazelaar; J. Roberson; D. L. Van Dyke; V. R. Babu; L. Weiss

doi:10.1002/ajmg.1320390203

Mother and son with deletion of 3p25-pter

J. Tazelaar, J. Roberson, D. L. Van Dyke, V. R. Babu, L. Weiss

Laboratory Medicine and Pathology

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

22 Scopus citations

Abstract

We report on a mother and son with a 3p25-pter deletion. Both have postnatal growth retardation, mental retardation, apparently low-set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p- patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother.

Original language	English (US)
Pages (from-to)	130-132
Number of pages	3
Journal	American journal of medical genetics
Volume	39
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.1320390203
State	Published - 1991

Keywords

3p deletion
chromosome 3
growth retardation
mental retardation

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320390203

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title = "Mother and son with deletion of 3p25-pter",

abstract = "We report on a mother and son with a 3p25-pter deletion. Both have postnatal growth retardation, mental retardation, apparently low-set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p- patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother.",

keywords = "3p deletion, chromosome 3, growth retardation, mental retardation",

author = "J. Tazelaar and J. Roberson and {Van Dyke}, {D. L.} and Babu, {V. R.} and L. Weiss",

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T1 - Mother and son with deletion of 3p25-pter

AU - Tazelaar, J.

AU - Roberson, J.

AU - Van Dyke, D. L.

AU - Babu, V. R.

AU - Weiss, L.

PY - 1991

Y1 - 1991

N2 - We report on a mother and son with a 3p25-pter deletion. Both have postnatal growth retardation, mental retardation, apparently low-set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p- patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother.

AB - We report on a mother and son with a 3p25-pter deletion. Both have postnatal growth retardation, mental retardation, apparently low-set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p- patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother.

KW - 3p deletion

KW - chromosome 3

KW - growth retardation

KW - mental retardation

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SN - 0148-7299

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EP - 132

JO - American journal of medical genetics

JF - American journal of medical genetics

IS - 2

ER -

Mother and son with deletion of 3p25-pter

Abstract

Keywords

ASJC Scopus subject areas

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