PMID- 11517768
OWN - NLM
STAT- MEDLINE
DCOM- 20020111
LR  - 20061115
IS  - 0016-6758 (Print)
IS  - 0016-6758 (Linking)
VI  - 37
IP  - 6
DP  - 2001 Jun
TI  - [Clinical and molecular cytogenetic analysis of a rare case of mosaicism for 
      partial monosomy 3p and partial trisomy 10q in human].
PG  - 811-6
AB  - 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.
FAU - Karamysheva, T V
AU  - Karamysheva TV
AD  - Institute of Cytology and Genetics, Novosibirsk, 630090 Russia.
FAU - Matveeva, V G
AU  - Matveeva VG
FAU - Shorina, A P
AU  - Shorina AP
FAU - Rubtsov, N B
AU  - Rubtsov NB
LA  - rus
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Klinicheskii i molekuliarno-tsitogeneticheskii analiz redkogo sluchaia 
      mozaitsizma po chastichnoi monosomii 3p i chastichnoi trisomii 10q u cheloveka.
PL  - Russia (Federation)
TA  - Genetika
JT  - Genetika
JID - 0047354
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 10
MH  - *Chromosomes, Human, Pair 3
MH  - Gene Library
MH  - Humans
MH  - In Situ Hybridization
MH  - Male
MH  - *Mosaicism
MH  - Polymerase Chain Reaction
MH  - *Trisomy
EDAT- 2001/08/24 10:00
MHDA- 2002/01/12 10:01
CRDT- 2001/08/24 10:00
PHST- 2001/08/24 10:00 [pubmed]
PHST- 2002/01/12 10:01 [medline]
PHST- 2001/08/24 10:00 [entrez]
PST - ppublish
SO  - Genetika. 2001 Jun;37(6):811-6.