De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration

D Kotzot; C Krüger; C Braun-Quentin

doi:10.1111/j.1399-0004.1996.tb02356.x

De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration

D Kotzot (First author), C Krüger, C Braun-Quentin

Research output: Contribution to journal › Case report › peer-review

Abstract

We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46,XY,dir dup (3) (p25-->pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square-shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few cases with such a small distal 3p duplication have been described, and none of them has a de novo direct duplication for this region. In our patient, dysmorphic signs are less impressive, and developmental delay is relatively moderate.

Original language	English
Pages (from-to)	96-8
Number of pages	3
Journal	CLINICAL GENETICS
Volume	50
Issue number	2
DOIs	https://doi.org/10.1111/j.1399-0004.1996.tb02356.x
Publication status	Published - Aug 1996
Externally published	Yes

Keywords

Abnormalities, Multiple/genetics
Child, Preschool
Chromosome Aberrations/genetics
Chromosome Disorders
Chromosomes, Human, Pair 3/genetics
Face/abnormalities
Humans
Intellectual Disability/genetics
Kidney/abnormalities
Male
Multigene Family
Muscle Hypotonia/genetics
Phenotype
Trisomy

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10.1111/j.1399-0004.1996.tb02356.x

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title = "De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration",

abstract = "We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46,XY,dir dup (3) (p25-->pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square-shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few cases with such a small distal 3p duplication have been described, and none of them has a de novo direct duplication for this region. In our patient, dysmorphic signs are less impressive, and developmental delay is relatively moderate.",

keywords = "Abnormalities, Multiple/genetics, Child, Preschool, Chromosome Aberrations/genetics, Chromosome Disorders, Chromosomes, Human, Pair 3/genetics, Face/abnormalities, Humans, Intellectual Disability/genetics, Kidney/abnormalities, Male, Multigene Family, Muscle Hypotonia/genetics, Phenotype, Trisomy",

author = "D Kotzot and C Kr{\"u}ger and C Braun-Quentin",

year = "1996",

month = aug,

doi = "10.1111/j.1399-0004.1996.tb02356.x",

language = "English",

volume = "50",

pages = "96--8",

journal = "CLINICAL GENETICS",

issn = "0009-9163",

publisher = "Wiley Verlag ",

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TY - JOUR

T1 - De novo direct duplication 3 (p25-->pter)

T2 - a previously undescribed chromosomal aberration

AU - Kotzot, D

AU - Krüger, C

AU - Braun-Quentin, C

PY - 1996/8

Y1 - 1996/8

N2 - We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46,XY,dir dup (3) (p25-->pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square-shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few cases with such a small distal 3p duplication have been described, and none of them has a de novo direct duplication for this region. In our patient, dysmorphic signs are less impressive, and developmental delay is relatively moderate.

AB - We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46,XY,dir dup (3) (p25-->pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square-shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few cases with such a small distal 3p duplication have been described, and none of them has a de novo direct duplication for this region. In our patient, dysmorphic signs are less impressive, and developmental delay is relatively moderate.

KW - Abnormalities, Multiple/genetics

KW - Child, Preschool

KW - Chromosome Aberrations/genetics

KW - Chromosome Disorders

KW - Chromosomes, Human, Pair 3/genetics

KW - Face/abnormalities

KW - Humans

KW - Intellectual Disability/genetics

KW - Kidney/abnormalities

KW - Male

KW - Multigene Family

KW - Muscle Hypotonia/genetics

KW - Phenotype

KW - Trisomy

U2 - 10.1111/j.1399-0004.1996.tb02356.x

DO - 10.1111/j.1399-0004.1996.tb02356.x

M3 - Case report

C2 - 8937769

SN - 0009-9163

VL - 50

SP - 96

EP - 98

JO - CLINICAL GENETICS

JF - CLINICAL GENETICS

IS - 2

ER -

De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration

Abstract

Keywords

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