Microdeletion 22q11.2, Kousseff syndrome and spina bifida

被引：8

作者：

Seller, MJ

Mohammed, S

Russell, J

Ogilvie, C

机构：

[1] Guys Kings & St Thomas Sch Med & Dent, Div Med & Mol Genet, London SE1 9RT, England

[2] Guys Hosp, Reg Genet Ctr, Dept Clin Genet, London SE1 9RT, England

[3] Reg Genet Ctr, Dept Cytogenet, London SE1 9RT, England

来源：

CLINICAL DYSMORPHOLOGY | 2002年 / 11卷 / 02期

关键词：

neural tube defects; spina bifida; Kousseff syndrome; deletion; 22q11.2; DiGeorge syndrome; velocardiofacial syndrome;

D O I：

10.1097/00019605-200204000-00007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousself syndrome was made, but detailed cytogenetics subsequently revealed a 22q11.2 deletion. In the light of these findings, and on review of the literature, we suggest that spina bifida is recognized as a feature of the variable phenotype associated with this microdeletion.

引用

页码：113 / 115

页数：3

共 12 条

[1]

Brown S F, 1975, J Iowa Med Soc, V65, P101

[2] PERSISTENT TRUNCUS ARTERIOSUS IN THE SPLOTCH MUTANT MOUSE [J].

FRANZ, T .

ANATOMY AND EMBRYOLOGY, 1989, 180 (05) :457-464

[3] DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 [J].

Jerome, LA ;

Papaioannou, VE .

NATURE GENETICS, 2001, 27 (03) :286-291

[4]

KOUSSEFF BG, 1984, PEDIATRICS, V74, P395

[5] VELO-CARDIO-FACIAL SYNDROME AND DIGEORGE SEQUENCE WITH MENINGOMYELOCELE AND DELETIONS OF THE 22Q11 REGION [J].

NICKEL, RE ;

PILLERS, DAM ;

MERKENS, M ;

MAGENIS, RE ;

DRISCOLL, DA ;

EMANUEL, BS ;

ZONANA, J .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 52 (04) :445-449

[6] DECREASE IN THYROCALCITONIN-CONTAINING CELLS AND ANALYSIS OF OTHER CONGENITAL-ANOMALIES IN 11 PATIENTS WITH DIGEORGE ANOMALY [J].

PALACIOS, J ;

GAMALLO, C ;

GARCIA, M ;

RODRIGUEZ, JI .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (06) :641-646

[7] Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study [J].

Ryan, AK ;

Goodship, JA ;

Wilson, DI ;

Philip, N ;

Levy, A ;

Seidel, H ;

Schuffenhauer, S ;

Oechsler, H ;

Belohradsky, B ;

Prieur, M ;

Aurias, A ;

Raymond, FL ;

ClaytonSmith, J ;

Hatchwell, E ;

McKeown, C ;

Beemer, FA ;

Dallapiccola, B ;

Novelli, G ;

Hurst, JA ;

Ignatius, J ;

Green, AJ ;

Winter, RM ;

Brueton, L ;

BrondumNielsen, K ;

Stewart, F ;

VanEssen, T ;

Patton, M ;

Paterson, J ;

Scambler, PJ .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (10) :798-804

[8]

Seller M J, 1986, Am J Med Genet Suppl, V2, P77

[9]

SELLER MJ, 1995, CLIN DYSMORPHOL, V4, P202

[10] AUTOSOMAL RECESSIVE SYNDROME OF SACRAL AND CONOTRUNCAL DEVELOPMENTAL FIELD DEFECTS (KOUSSEFF SYNDROME) [J].

TORIELLO, HV ;

SHARDA, JK ;

BEAUMONT, EJ .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 22 (02) :357-360

← 1 2 →