Trisomy 2p: Analysis of unusual phenotypic findings

We present three probands with partial trisomies 2p21–23 due to ins(4;2)(q21;p21p23) pat, 2p23‐pter due to t(2;4)(p23;q35)mat, and 2p21‐pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural au...

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Veröffentlicht in:	American Journal of Medical Genetics 1995-01, Vol.55 (2), p.229-236
Hauptverfasser:	Lurie, Iosif W., Ilyina, Helena G., Gurevich, Dora B., Rumyantseva, Natalja V., Naumchik, Irena V., Castellan, Claudio, Hoeller, Adelheid, Schinzel, Albert
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES broncho-pulmonary a/hypoplasia CHROMOSOMAL ABERRATIONS chromosome 2 Chromosome aberrations Chromosomes, Human, Pair 2 CONGENITAL DISEASES congenital heart disease CONGENITAL MALFORMATIONS diaphragmatic hernia embryonal surveillance system Female GENES GENETIC MAPPING HUMAN CHROMOSOME 2 Humans Infant Karyotyping Medical genetics Medical sciences neural tube defects neuroblastoma ONTOGENESIS partial trisomy PATIENTS PHENOTYPE short arm short arm, partial trisomy Trisomy
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