PMID- 15551340
OWN - NLM
STAT- MEDLINE
DCOM- 20050418
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 132A
IP  - 2
DP  - 2005 Jan 15
TI  - Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic 
      comparison of two brothers and a paternal aunt inheriting the der(14).
PG  - 164-70
AB  - A 14-year-old boy was referred for a genetics evaluation after high-resolution 
      chromosome analysis showed a small amount of extra material in the proximal long 
      arm of chromosome 21. Five years prior, his karyotype analysis was interpreted as 
      normal with a variant chromosome 21. The patient has short palpebral fissures, 
      strabismus, flat antihelices of the ears, long thumbs with bilaterally absent 
      interphalangeal creases, proximal bilateral 3/4 syndactyly, small testes, 
      hypotonia, mental retardation, and speech problems. He has significant depression 
      and behavioral problems including hyperactivity, aggression, and impulsivity. His 
      8-year-old brother has more severe behavioral disturbances and depression, but 
      less significant mental retardation. A paternal aunt has mental retardation, is 
      unusually docile, and appears similar to our patient. Chromosome analysis and 
      fluorescence in situ hybridization (FISH) whole chromosome paint of chromosome 21 
      showed that the patient's father carries a "cryptic" balanced translocation, 
      46,XY, t(14;21)(q11.2;q11.2), as does the patient's paternal grandmother. 
      Uniparental disomy studies using seven informative polymorphic nucleotide repeat 
      markers from 14q and 21q confirmed biparental inheritance of the number 14 and 21 
      chromosomes for each brother, and indicate that they and the paternal aunt, all 
      of whom inherited the der(14), are monosomic for proximal 21q and trisomic for 
      proximal 14q. These karyotypes arose through an adjacent-2 segregation in the 
      father on two occasions, and from the paternal grandmother on one occasion. This 
      family is an example of recurrent malsegregation with translocations involving 
      the acrocentrics.
FAU - Chen, Emily
AU  - Chen E
AD  - Department of Genetics, Kaiser Permanente Medical Group, Oakland, CA 94611, USA. 
      emily.chen@kp.org
FAU - Choe, Michele A
AU  - Choe MA
FAU - Loughman, William D
AU  - Loughman WD
FAU - Covert, Susan
AU  - Covert S
FAU - Bitts, Sheila
AU  - Bitts S
FAU - Rowe, Amy
AU  - Rowe A
FAU - Beischel, Linda
AU  - Beischel L
FAU - Johnson, John P
AU  - Johnson JP
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adult
MH  - Child
MH  - Chromosome Banding
MH  - Chromosome Segregation/*genetics
MH  - Chromosomes, Human, Pair 14/*genetics
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Family Health
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Meiosis/genetics
MH  - Microsatellite Repeats
MH  - Middle Aged
MH  - Models, Genetic
MH  - Pedigree
MH  - Phenotype
MH  - Siblings
MH  - *Translocation, Genetic
EDAT- 2004/11/20 09:00
MHDA- 2005/04/19 09:00
CRDT- 2004/11/20 09:00
PHST- 2004/11/20 09:00 [pubmed]
PHST- 2005/04/19 09:00 [medline]
PHST- 2004/11/20 09:00 [entrez]
AID - 10.1002/ajmg.a.30511 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Jan 15;132A(2):164-70. doi: 10.1002/ajmg.a.30511.