PMID- 19760655
OWN - NLM
STAT- MEDLINE
DCOM- 20091217
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 149A
IP  - 10
DP  - 2009 Oct
TI  - Inherited 14q duplication and 21q deletion: a rare adjacent-2 segregation in 
      multiple family members.
PG  - 2248-53
LID - 10.1002/ajmg.a.32999 [doi]
AB  - We present a family with multiple carriers of a subtle balanced translocation 
      t(14;21)(q21.2;q21.2) and three patients with a resultant adjacent-2 
      malsegregation containing a +der(14)t(14;21)(q21.2;q21.2),-21 in their chromosome 
      complement. The initial study was performed when a 2-month-old female was 
      referred to genetics clinic for evaluation of developmental delay, growth 
      retardation, and failure to thrive. Physical findings included prominent eyes, 
      micrognathia, prominent and simple external ears, camptodactyly, contractures of 
      the wrists, ankles, and hips, hypoplasia of the corpus callosum, prominent atria 
      and occipital horns, cerebellopontine hypoplasia; and small atrial septal defect. 
      High resolution chromosomes showed an extra band on the proximal 21q and 
      fluorescence in situ hybridization (FISH) demonstrated only one signal for the 
      centromere of 21. Karyotypes of the parents and grandparents revealed that the 
      mother and maternal grandfather were carriers of a balanced translocation, and 
      the propositus contained an unbalanced chromosome complement with partial 
      duplication of proximal 14q and partial deletion of proximal 21q. Investigations 
      performed on an institutionalized maternal aunt revealed identical karyotypic 
      abnormalities as in the propositus. More recently, array comparative genomic 
      hybridization (aCGH) on a subsequent child with multiple congenital anomalies 
      further out in the extended family allowed for more accurate identification of 
      the breakpoints. Our investigation includes analysis on a total of 11 family 
      members spanning three generations. Among those investigated, there were no 
      living members with other possible consequential unbalanced translocations or 
      with adjacent-2 segregation resulting in -14,+der(21). Chromosome rearrangements 
      require FISH and aCGH studies for accurate identification and elucidation of the 
      abnormality and breakpoints.
FAU - Dave, Bhavana J
AU  - Dave BJ
AD  - Department of Pediatrics, Human Genetics Laboratory, Munroe Meyer Institute for 
      Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, 
      Nebraska 68198-5440, USA. bdave@unmc.edu
FAU - Olney, Ann Haskins
AU  - Olney AH
FAU - Zaleski, Dianna H
AU  - Zaleski DH
FAU - Pickering, Diane L
AU  - Pickering DL
FAU - Becker, Troy A
AU  - Becker TA
FAU - Chipman, Hope E
AU  - Chipman HE
FAU - Sanger, Warren G
AU  - Sanger WG
LA  - eng
PT  - Case Reports
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  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*genetics
MH  - Chromosome Segregation/*genetics
MH  - *Chromosomes, Human, Pair 14
MH  - *Chromosomes, Human, Pair 21
MH  - Family
MH  - Female
MH  - Gene Duplication
MH  - Humans
MH  - Infant
MH  - Male
MH  - Pedigree
EDAT- 2009/09/18 06:00
MHDA- 2009/12/18 06:00
CRDT- 2009/09/18 06:00
PHST- 2009/09/18 06:00 [entrez]
PHST- 2009/09/18 06:00 [pubmed]
PHST- 2009/12/18 06:00 [medline]
AID - 10.1002/ajmg.a.32999 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2009 Oct;149A(10):2248-53. doi: 10.1002/ajmg.a.32999.