PMID- 14699608
OWN - NLM
STAT- MEDLINE
DCOM- 20040728
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 124A
IP  - 2
DP  - 2004 Jan 15
TI  - Segregation of a t(1;3) translocation in multiple affected family members with 
      both types of adjacent-1 segregants.
PG  - 118-28
AB  - A subtle balanced translocation involving the terminal regions of 1q and 3p was 
      identified in a large family by high-resolution karyotype analysis and confirmed 
      by fluorescence in situ hybridization (FISH) analysis. In this family, 
      segregation of a balanced t(1:3)(q42.3;p25) chromosome translocation led to two 
      types of viable unbalanced complements. The proband inherited the derivative 
      chromosome 3, resulting in partial trisomy of 1q and partial monosomy of 3p. A 
      paternal uncle and cousin had the reciprocal rearrangement with a derivative of 
      chromosome 1, resulting in partial monosomy for 1q and partial trisomy for 3p. 
      While profound mental and physical retardation and congenital heart defects were 
      characteristics for both rearrangements, facial dysmorphism was quite distinct 
      for each imbalance. Individuals who had the derivative chromosome 3 had a long 
      face, wide eyebrows, small palpebral fissures, hypertelorism, prominent glabella, 
      a large tip of the nose, long philtrum with thin upper lip, and low set-ears. In 
      contrast, family members with the derivative of chromosome 1 had a tall forehead 
      with bifrontal narrowing, full and large cheeks, and large simple ears. Since the 
      translocated segments are small and approximately equal in size in this family, 
      it is not surprising that viability was seen in individuals with both types of 
      adjacent-1 segregation. In this kindred, the ratio of normal to abnormal 
      individuals born to balanced carriers is believed to be about 1:1.5. This 
      suggests that the recurrence risk for carriers is 50%.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Kozma, Chahira
AU  - Kozma C
AD  - Department of Pediatrics, Georgetown University Medical Center, Washington, DC, 
      USA. kozmac@georgetown.edu
FAU - Slavotinek, Anne M
AU  - Slavotinek AM
FAU - Meck, Jeanne M
AU  - Meck JM
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/pathology
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Segregation
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Face/abnormalities
MH  - Family Health
MH  - Fatal Outcome
MH  - Female
MH  - Growth Disorders/pathology
MH  - Heart Defects, Congenital/pathology
MH  - Humans
MH  - Hypertelorism/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Intellectual Disability/pathology
MH  - Karyotyping
MH  - Male
MH  - Nose/abnormalities
MH  - Pedigree
MH  - *Translocation, Genetic
EDAT- 2003/12/31 05:00
MHDA- 2004/07/29 05:00
CRDT- 2003/12/31 05:00
PHST- 2003/12/31 05:00 [pubmed]
PHST- 2004/07/29 05:00 [medline]
PHST- 2003/12/31 05:00 [entrez]
AID - 10.1002/ajmg.a.20332 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Jan 15;124A(2):118-28. doi: 10.1002/ajmg.a.20332.