Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions

被引：11

作者：

Wadt, Karin ^{[1
]}

Jensen, Lisa Neerup ^{[2
]}

Bjerglund, Lise ^{[3
]}

Lundstrom, Majken ^{[4
]}

Kirchhoff, Maria ^{[1
]}

Kjaergaard, Susanne ^{[1
]}

机构：

[1] Rigshosp, Univ Copenhagen Hosp, Dept Clin Genet, Copenhagen, Denmark

[2] Rigshosp, Univ Copenhagen Hosp, Dept Fetal Med, Copenhagen, Denmark

[3] Nykobing F Hosp, Dept Pediat, Guldborgsund, Region Sjaellan, Denmark

[4] Hvidovre Univ Hosp, Univ Copenhagen Hosp, Dept Fetal Ultrasound, Hvidovre, Denmark

来源：

PRENATAL DIAGNOSIS | 2012年 / 32卷 / 12期

关键词：

COMPARATIVE GENOMIC HYBRIDIZATION; MULTIPLE MALFORMATIONS; IMBALANCES; FETUSES;

D O I：

10.1002/pd.3981

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Submicroscopic terminal 6q deletions are rare. We report on two familial submicroscopic terminal 6q deletions ascertained because of prenatally detected isolated ventriculomegaly and further delineate the variable prenatal and postnatal phenotype. We review published cases of <5?Mb terminal 6q deletions. (C) 2012 John Wiley & Sons, Ltd.

引用

页码：1212 / 1217

页数：6

共 50 条

[1] Isolated 6q terminal deletions: An emerging new syndrome
Bertini, V
De Vito, G
Costa, R
Simi, P
Valetto, A
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (01) : 74 - 81
[2] NEW INSIGHTS INTO THE PHENOTYPES OF 6Q DELETIONS
HOPKIN, RJ
SCHORRY, EK
BOFINGER, M
MILATOVICH, T
STERN, HJ
SAAL, HM
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 647 - 647
[3] NONRANDOM CHROMOSOME BREAKPOINTS IN 6Q DELETIONS
HECHT, F
HECHT, BK
CLINICAL GENETICS, 1992, 41 (03) : 167 - 168
[4] New insights into the phenotypes of 6q deletions
Hopkin, RJ
Schorry, E
Bofinger, M
Milatovich, A
Stern, HJ
Jayne, C
Saal, HM
AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 70 (04): : 377 - 386
[5] 2 PATIENTS WITH INTERSTITIAL DELETIONS OF CHROMOSOME 6Q
YOUNG, RS
MOORE, CM
FIDONE, GS
GARCIA, PA
AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A163 - A163
[6] Unravelling proximal 6q deletions with the help of Facebook
Engwerda, A.
Frentz, B.
Bouman, P.
Slofstra, M.
Adriaanse, E.
Swertz, M. A.
van Ravenswaaij-Arts, C. M. A.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 496 - 496
[7] 6q deletions in pediatric acute lymphoblastic leukemia.
Calero, T
Heyman, M
Merup, M
Grandér, D
Rasool, O
Söderhäll, S
Gahrton, G
Einhorn, S
BLOOD, 1999, 94 (10) : 188B - 188B
[8] Identification and characterization of proximal 6q deletions in prostate cancer
Cooney, KA
Wetzel, JC
Consolino, CM
Wojno, KJ
CANCER RESEARCH, 1996, 56 (18) : 4150 - 4153
[9] Prognostic Relevance of Immunophenotype and 6q Deletions in Waldenstrom's Macroglobulinemia
Jiang, A.
Qi, C.
Trieu, Y.
Xu, W.
Reece, D.
Chen, C.
Chang, H.
MODERN PATHOLOGY, 2010, 23 : 304A - 304A
[10] Prognostic Relevance of Immunophenotype and 6q Deletions in Waldenstrom's Macroglobulinemia
Jiang, A.
Qi, C.
Trien, Y.
Xu, W.
Reece, D.
Chen, C.
Chang, H.
LABORATORY INVESTIGATION, 2010, 90 : 304A - 304A

← 1 2 3 4 5 →