PARTIAL 3Q DUPLICATION SYNDROME AND ASSIGNMENT OF D3S5 TO 3Q25-3Q28

AJ VANESSEN; K KOK; Anke van den Berg; B DEJONG; F STELLINK; AF BOS; H SCHEFFER; CHCM BUYS

PARTIAL 3Q DUPLICATION SYNDROME AND ASSIGNMENT OF D3S5 TO 3Q25-3Q28

AJ VANESSEN^*, K KOK, Anke van den Berg, B DEJONG, F STELLINK, AF BOS, H SCHEFFER, CHCM BUYS

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.

Original language	English
Pages (from-to)	151-154
Number of pages	4
Journal	HUMAN GENETICS
Volume	87
Issue number	2
Publication status	Published - Jun-1991

Keywords

PARTIAL TRISOMY 3Q
DUP(3Q) SYNDROME
TRANSLOCATION
DELETION

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Cite this

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title = "PARTIAL 3Q DUPLICATION SYNDROME AND ASSIGNMENT OF D3S5 TO 3Q25-3Q28",

abstract = "We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.",

keywords = "PARTIAL TRISOMY 3Q, DUP(3Q) SYNDROME, TRANSLOCATION, DELETION",

author = "AJ VANESSEN and K KOK and {van den Berg}, Anke and B DEJONG and F STELLINK and AF BOS and H SCHEFFER and CHCM BUYS",

year = "1991",

month = jun,

language = "English",

volume = "87",

pages = "151--154",

journal = "HUMAN GENETICS",

issn = "0340-6717",

publisher = "SPRINGER",

number = "2",

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TY - JOUR

T1 - PARTIAL 3Q DUPLICATION SYNDROME AND ASSIGNMENT OF D3S5 TO 3Q25-3Q28

AU - VANESSEN, AJ

AU - KOK, K

AU - van den Berg, Anke

AU - DEJONG, B

AU - STELLINK, F

AU - BOS, AF

AU - SCHEFFER, H

AU - BUYS, CHCM

PY - 1991/6

Y1 - 1991/6

N2 - We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.

AB - We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.

KW - PARTIAL TRISOMY 3Q

KW - DUP(3Q) SYNDROME

KW - TRANSLOCATION

KW - DELETION

M3 - Article

VL - 87

SP - 151

EP - 154

JO - HUMAN GENETICS

JF - HUMAN GENETICS

SN - 0340-6717

IS - 2

ER -