title: [Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].
abstract: Terminal deletion of the long arm of chromosome 2 belongs to the most common structural aberrations of subtelomeric chromosomal regions. Clinical manifestations of this syndrome comprise: global psychomotor delay, moderate to severe mental retardation with specific facial dysmorphism. In some cases a phenotype similar to Albright's hereditary osteodystrophy (AHO) may also be observed (short stature, obesity, brachydactyly). The paper covers the characteristics of clinical features in four cases of terminal deletions in 2q36.2, 2q37.1 and 2q37.3 identified in routine cytogenetic study and fluorescent in situ hybridization (FISH) technique. In one case the deletion of subtelomeric region of chromosome 2 (2q37.3) occurred as a result of reciprocal translocation between chromosomes 2 and 7. A comparison was made of clinical symptoms present in our patients with relevant data concerning other cases of 2q monosomy, described in specialized publications.
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 11a, 01-211 Warszawa, Poland. kszczaluba@poczta.onet.pl
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczałuba
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.forename: Kamila
authors.initials: K
authors.lastname: Ziemkiewicz
authors.forename: Aleksander
authors.initials: A
authors.lastname: Jamsheer
authors.forename: Ewa
authors.initials: E
authors.lastname: Bocian
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype