Congenital heart disease

A locus for isolated cataract on human Xp
P J Francis, V Berry, A J Hardcastle, E R Maher, A T Moore, S S Bhattacharya

Journal of Medical Genetics Feb 2002, 39 (2) 105-109; DOI: 10.1136/jmg.39.2.105
Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
J Siegel-Bartlet, A Levin, A S Teebi, S J Kennedy

Journal of Medical Genetics Feb 2002, 39 (2) 145-148; DOI: 10.1136/jmg.39.2.145
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations
G Barbi, E Rossier, S Vossbeck, H Hummler, D Lang, F Flock, R Terinde, J Wirth, W Vogel, H Kehrer-Sawatzki

Journal of Medical Genetics Feb 2002, 39 (2) e6; DOI: 10.1136/jmg.39.2.e6
Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations
Robert P Erickson, Susan L Dagenais, Mark S Caulder, Catherine A Downs, Gail Herman, Marilyn C Jones, Wilhelmina S Kerstjens-Frederikse, Andrew C Lidral, Marie McDonald, Christine C Nelson, Marlys Witte, Thomas W Glover

Journal of Medical Genetics Nov 2001, 38 (11) 761-766; DOI: 10.1136/jmg.38.11.761
Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material
Tohru Yorifuji, Junko Muroi, Mitsukazu Mamada, Ayumi Uematsu, Masahiko Kawai, Toru Momoi, Masayuki Kaji, Chutaro Yamanaka, Tatsutoshi Nakahata

Journal of Medical Genetics Nov 2001, 38 (11) e41; DOI: 10.1136/jmg.38.11.e41
CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping
DORIT LEV, ORLY NAKAR, IRIT BAR-AM, ALEXANDER ZUDIK, NATHAN WATEMBERG, SHARON FINKELSTIEN, NIRIT KATZIN, TALLY LERMAN-SAGIE

Journal of Medical Genetics Dec 2000, 37 (12) e47; DOI: 10.1136/jmg.37.12.e47
Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22
GHAZALA MIRZA, KIYOSHI IMAIZUMI, JIANNIS RAGOUSSIS

Journal of Medical Genetics Sep 2000, 37 (9) e22; DOI: 10.1136/jmg.37.9.e22
DiGeorge syndrome with discordant phenotype in monozygotic twins
G HILLEBRAND, R SIEBERT, E SIMEONI, R SANTER

Journal of Medical Genetics Sep 2000, 37 (9) e23; DOI: 10.1136/jmg.37.9.e23
Detailed mapping of a congenital heart disease gene in chromosome 3p25
Elaine K Green, Matthew D Priestley, Jonathan Waters, Chris Maliszewska, Farida Latif, Eamonn R Maher

Journal of Medical Genetics Aug 2000, 37 (8) 581-587; DOI: 10.1136/jmg.37.8.581
A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q
M L WHITEFORD, C BAIRD, S KINMOND, B DONALDSON, H R DAVIDSON

Journal of Medical Genetics Aug 2000, 37 (8) e11; DOI: 10.1136/jmg.37.8.e11

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