Interstitial deletion of chromosome 2q associated with ovarian dysgenesis
- 1 May 1991
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 39 (5) , 386-390
- https://doi.org/10.1111/j.1399-0004.1991.tb03047.x
Abstract
In the present report we describe a girl with mental retardation, Dandy‐Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.Keywords
This publication has 12 references indexed in Scilit:
- Deletions in chromosome 2 and fragile sitesAmerican Journal of Medical Genetics, 1990
- Unstable translocation t(14;21) in a man, inherited as a t(13;14) in one of his daughtersClinical Genetics, 1988
- Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46, XX, del(2) (q31q33)American Journal of Medical Genetics, 1986
- Reduced oocyte numbers in tertiary trisomic mice with male sterilityCytogenetic and Genome Research, 1986
- Prenatal Diagnosis of Chromosome AbnormalitiesPublished by Springer Nature ,1986
- Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).Journal of Medical Genetics, 1983
- DE NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 2 IN A MALFORMED NEWBORN WITH A KARYOTYPE: 46, XY, del(2)(q12q14)Acta Paediatrica, 1983
- FOLLICULAR DEVELOPMENT IN OVARIES OF CHILDREN WITH DOWN'S SYNDROMEActa Paediatrica, 1978
- Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21;q24)Human Genetics, 1977
- Mapping Human Autosomes: Assignment of the MN Locus to a Specific Segment in the Long Arm of Chromosome No. 2Science, 1973