PMID- 9217215
OWN - NLM
STAT- MEDLINE
DCOM- 19970903
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 71
IP  - 2
DP  - 1997 Aug 8
TI  - Maternal balanced translocation leading to partial duplication of 4q and partial 
      deletion of 1p in a son: cytogenetic and FISH studies using band-specific 
      painting probes generated by chromosome microdissection.
PG  - 160-6
AB  - A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, 
      plagiocephaly, and several minor anomalies had the initial karyotype: 
      46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived 
      from an unfavorable segregation of a maternal complex chromosome rearrangement, 
      i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome 
      fluorescence in situ hybridization (FISH) and chromosome microdissection were 
      used to clarify the maternal karyotype as: 
      46,XX,der(1)t(1;4)(4qter-->4q33::1p36.13-->1qter),der( 
      4)t(1;4)inv(4)(4pter-->4q31.3::1p36.33-->1p36.13::4q33 
      -->4q31.3::1p36.33-->1pter). Therefore, the karyotype of the boy actually was 
      46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical 
      findings showed similarities to individuals with partial del(1p) and dup(4q). To 
      our knowledge the above cytogenetic abnormalities have not been described 
      previously. This case further demonstrates the advantages of chromosome 
      microdissection and FISH in the identification of anomalous chromosome regions 
      and breakpoints.
FAU - Chen, Z
AU  - Chen Z
AD  - Genzyme Genetics, Scottsdale, Arizona, USA.
FAU - Grebe, T A
AU  - Grebe TA
FAU - Guan, X Y
AU  - Guan XY
FAU - Notohamiprodjo, M
AU  - Notohamiprodjo M
FAU - Nutting, P J
AU  - Nutting PJ
FAU - Stone, J F
AU  - Stone JF
FAU - Trent, J M
AU  - Trent JM
FAU - Sandberg, A A
AU  - Sandberg AA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Probes)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1/*genetics/ultrastructure
MH  - Chromosomes, Human, Pair 4/*genetics/ultrastructure
MH  - Craniofacial Abnormalities/*genetics
MH  - DNA Probes
MH  - Female
MH  - Fetal Diseases/*genetics
MH  - Growth Disorders/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Metaphase
MH  - Pedigree
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Syndrome
MH  - *Translocation, Genetic
EDAT- 1997/08/08 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/08/08 00:00
PHST- 1997/08/08 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/08/08 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19970808)71:2<160::AID-AJMG8>3.0.CO;2-1 [pii]
AID - 10.1002/(sici)1096-8628(19970808)71:2<160::aid-ajmg8>3.0.co;2-1 [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 Aug 8;71(2):160-6. doi: 
      10.1002/(sici)1096-8628(19970808)71:2<160::aid-ajmg8>3.0.co;2-1.