Familial transmission of a ring chromosome 21

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented and discussed, and the previously reported cases of familially transmitted G-group ring chromosomes are reviewed.
OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind32
Udgave nummer1
Sider (fra-til)35-9
Antal sider5
ISSN0009-9163
StatusUdgivet - 1987

Fingeraftryk

Nuclear Family
Delayed Puberty
Ring Chromosomes
Chromosomes, Human, Pair 21
Mothers

Citer dette

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title = "Familial transmission of a ring chromosome 21",
abstract = "A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented and discussed, and the previously reported cases of familially transmitted G-group ring chromosomes are reviewed.",
keywords = "Adolescent, Adult, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 21, Cryptorchidism, Female, Humans, Male, Phenotype, Puberty, Delayed, Ring Chromosomes",
author = "Hertz, {Jens Michael}",
year = "1987",
language = "English",
volume = "32",
pages = "35--9",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "1",

}

Familial transmission of a ring chromosome 21. / Hertz, Jens Michael.

I: Clinical Genetics, Bind 32, Nr. 1, 1987, s. 35-9.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Familial transmission of a ring chromosome 21

AU - Hertz, Jens Michael

PY - 1987

Y1 - 1987

N2 - A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented and discussed, and the previously reported cases of familially transmitted G-group ring chromosomes are reviewed.

AB - A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented and discussed, and the previously reported cases of familially transmitted G-group ring chromosomes are reviewed.

KW - Adolescent

KW - Adult

KW - Chromosome Aberrations

KW - Chromosome Disorders

KW - Chromosomes, Human, Pair 21

KW - Cryptorchidism

KW - Female

KW - Humans

KW - Male

KW - Phenotype

KW - Puberty, Delayed

KW - Ring Chromosomes

M3 - Journal article

VL - 32

SP - 35

EP - 39

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 1

ER -