A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 12pter) normal parent.

Human genetics ·Vol. 34 ·No. 1 ·1976-09-10 ·Pages 103-6

Johnson G, Bachman R

Abstract

A normal female with an 18p--chromosome but without any feature of the 18p--syndrome produced a cebocephalic child whose karyotype included an 18p--chromosome. Evidence is presented that the normal female is a nonreciprocal translocation heterozygote resulting from the short arm of one chromosome 18 becoming attached to the long arm of a chromosome 12.

MeSH Terms

Abnormalities, Multiple/genetics Anencephaly/genetics Brain/abnormalities Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 16-18 Chromosomes, Human, 6-12 and X Female Head/abnormalities Humans Infant, Newborn Male Pedigree Translocation, Genetic

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Johnson G

Bachman R

References (10)

10 references, click to expand

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New technique for distinguishing between human chromosomes.
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Identification of a 18-21 translocation with Klinefelter's syndrome by G-band patterns.
Humangenetik. 1974 Mar 28;21(4):323-9 PMID: 4134628
FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA.
Am J Hum Genet. 1965 Sep;17:410-9 PMID: 14334740
[Complete deletion of the short arm of chromosome 18 and G-18 translocation with dyschromy and hypothyroidism].
Arch Fr Pediatr. 1971 Oct;28(8):837-46 PMID: 5123541
Dicentric chromosome due to an unusual fusion.
Humangenetik. 1971;12(2):136-41 PMID: 5568732
Arrhinencephaly associated with a deficiency involving chromosome 18.
J Med Genet. 1968 Mar;5(1):60-7 PMID: 5653872
[On a case of partial deletion of the short arm of chromosome 18, resulting in a familial 18c-17 translocation].
Ann Genet. 1966;9(1):27-31 PMID: 5295911
The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.
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Hereditas. 1972;67(1):89-102 PMID: 4142006

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00284446

Published

1976-09-10

Pages

103-6

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00284446 View journal details

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A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 12pter) normal parent.

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