Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

American journal of human genetics ·Vol. 26 ·No. 6 ·1974-11-00 ·Pages 715-22

Funderburk SJ, Crandall BF

Abstract

暂无摘要

MeSH Terms

Body Height Child, Preschool Chromosome Aberrations Chromosome Mapping Chromosomes, Human, 13-15 Chromosomes, Human, 4-5 Fibroblasts/ultrastructure Genes, Dominant Growth Disorders/genetics Humans Intellectual Disability/genetics Karyotyping Lymphocytes/ultrastructure Male Pigmentation Disorders/genetics Staining and Labeling Translocation, Genetic

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Funderburk S J

Crandall B F

References (15)

15 references, click to expand

The meiotic behavior of the Drosophila oocyte.
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Familial white skin spotting (piebaldness) ("partial albinism") with white forelock.
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Dominant piebald trait (white forelock and leukoderma) with neurological impairment.
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Retinoblastoma and D-chromosome deletions.
Lancet. 1971 Dec 18;2(7738):1376 PMID: 4108292
Sleep related human growth hormone (GH) release: a test of physiologic growth hormone secretion in children.
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High resolution studies on the pattern of induced exchanges in the human karyotype.
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Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies.
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Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.
Science. 1973 Dec 21;182(4118):1261-2 PMID: 4752219
A child with multiple congenital malformations and a 46,XX,t(Bq+;Dq-)-45,XX,-B,-D,+der(B),t(Bq+;Dq-) karyotype.
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A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.
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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1974-11-00

Pages

715-22

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1762855

Subset

External Links

PubMed source PMC Full Text View journal details

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Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

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