Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2)

Jens Michael Hertz, W Coerdt, N Hahnemann, M Schwartz

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p21----q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11----p14.2).
OriginalsprogEngelsk
TidsskriftHuman Genetics
Vol/bind79
Udgave nummer4
Sider (fra-til)389-91
Antal sider3
ISSN0340-6717
StatusUdgivet - 1988

Fingeraftryk

Chromosomes, Human, Pair 3
Pathology
Fetus
Wrist
Dilatation

Citer dette

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title = "Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2)",
abstract = "A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p21----q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11----p14.2).",
keywords = "Abnormalities, Multiple, Abortion, Therapeutic, Amniocentesis, Chromosome Banding, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 3, Galactosidases, Humans, Male, beta-Galactosidase",
author = "Hertz, {Jens Michael} and W Coerdt and N Hahnemann and M Schwartz",
year = "1988",
language = "English",
volume = "79",
pages = "389--91",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Heinemann",
number = "4",

}

Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2). / Hertz, Jens Michael; Coerdt, W; Hahnemann, N; Schwartz, M.

I: Human Genetics, Bind 79, Nr. 4, 1988, s. 389-91.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2)

AU - Hertz, Jens Michael

AU - Coerdt, W

AU - Hahnemann, N

AU - Schwartz, M

PY - 1988

Y1 - 1988

N2 - A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p21----q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11----p14.2).

AB - A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p21----q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11----p14.2).

KW - Abnormalities, Multiple

KW - Abortion, Therapeutic

KW - Amniocentesis

KW - Chromosome Banding

KW - Chromosome Deletion

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 3

KW - Galactosidases

KW - Humans

KW - Male

KW - beta-Galactosidase

M3 - Journal article

C2 - 3137147

VL - 79

SP - 389

EP - 391

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 4

ER -