[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].
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.
Szczałuba
Krzysztof
K
Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 11a, 01-211 Warszawa, Poland. kszczaluba@poczta.onet.pl
Obersztyn
Ewa
E
Ziemkiewicz
Kamila
K
Jamsheer
Aleksander
A
Bocian
Ewa
E
Mazurczak
Tadeusz
T
D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype