[Clinical and molecular cytogenetic analysis of a rare case of mosaicism for partial monosomy 3p and partial trisomy 10q in human].
The results of comprehensive clinical examination and molecular cytogenetic analysis of a patient carrying chromosome 3p+ in 69% of the peripheral blood lymphocytes are presented. Using microdissection of the metaphase chromosomes followed by DOP-PCR, a DNA library specific for the abnormal chromosome was obtained. By fluorescence in situ hybridization (FISH) of this DNA library with chromosomes from the patient and a healthy donor, the aberrant chromosome was identified as der(3)t(3;10)(3p25;q24.3). Since this chromosome was present in only a proportion of patient's cells studied and no chromosome aberrations were revealed in cells of his parents, the der(3)t(3;10) is suggested to appear de novo. The cells carrying der(3)t(3;10) are monosomic for a proportion of 3p25 and trisomic for 10q24.3-->qter. The developmental malformations revealed in the patient, such as the specific features of facial skeleton, mental retardation, microcephaly, and others are similar to those described previously in patients with partial 3p monosomy and 10q trisomy.
Karamysheva
T V
TV
Institute of Cytology and Genetics, Novosibirsk, 630090 Russia.
Matveeva
V G
VG
Shorina
A P
AP
Rubtsov
N B
NB
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002893:Chromosomes, Human, Pair 3; D015723:Gene Library; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D014314:Trisomy
Klinicheskiĭ i molekuliarno-tsitogeneticheskiĭ analiz redkogo sluchaia mozaitsizma po chastichnoĭ monosomii 3p i chastichnoĭ trisomii 10q u cheloveka.