PMID- 19449434
OWN - NLM
STAT- MEDLINE
DCOM- 20090923
LR  - 20220311
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 149A
IP  - 7
DP  - 2009 Jul
TI  - Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a 
      patient report and review.
PG  - 1468-75
LID - 10.1002/ajmg.a.32714 [doi]
AB  - We present a family with multiple cytogenetic abnormalities, identified through a 
      girl with several dysmorphic features and cardiac problems, suspected for 
      Jacobsen syndrome. Cytogenetic analysis showed a 46,XX,del(11)(qter) karyotype, 
      which was confirmed by fluorescence in situ hybridization (FISH). Cytogenetic 
      investigation of the parents showed a chromosome aberration in both: the father 
      had a t(11;12)(p13;q22) translocation and the mother was carrier of an 
      ins(4;11)(p14;q24q25). FISH analysis with an 11q-subtelomeric probe from the 
      second-generation telomere clone set and BACs from 11q24-q25 suggested a complex 
      maternal rearrangement. However, subsequent array analysis showed a single 
      interstitial deletion in the proband, derived from the maternal insertion. The 
      aberrant karyotypes in both parents implicated an increased risk of unbalanced 
      fetal chromosome composition, thus high risk for a child with multiple congenital 
      abnormalities. Therefore, during the next pregnancy, the couple opted for 
      prenatal diagnosis by means of amniocentesis. An interphase FISH strategy for 
      uncultured amniotic fluid cells predicted two possible unbalanced fetal 
      chromosome constitutions. Karyotyping of cultured amniotic cells confirmed one of 
      the predicted unbalanced cytogenetic options, demonstrating the value of a fast 
      interphase strategy for parents who both are carriers of a chromosomal 
      abnormality. In addition, we present an overview of patients with Jacobsen 
      syndrome and an interstitial 11q deletion reported thus far in literature.
FAU - Van Zutven, Laura J C M
AU  - Van Zutven LJ
AD  - Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
FAU - van Bever, Yolande
AU  - van Bever Y
FAU - Van Nieuwland, Carolien C M
AU  - Van Nieuwland CC
FAU - Huijbregts, Gido C M
AU  - Huijbregts GC
FAU - Van Opstal, Diane
AU  - Van Opstal D
FAU - von Bergh, Anne R M
AU  - von Bergh AR
FAU - Corel, Linda J A
AU  - Corel LJ
FAU - Tibboel, Dick
AU  - Tibboel D
FAU - Wouters, Cokkie H
AU  - Wouters CH
FAU - Poddighe, Pino J
AU  - Poddighe PJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 4
MH  - Family
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Inheritance Patterns
MH  - Jacobsen Distal 11q Deletion Syndrome/diagnosis/genetics
MH  - Male
MH  - *Mothers
MH  - *Translocation, Genetic
RF  - 25
EDAT- 2009/05/19 09:00
MHDA- 2009/09/24 06:00
CRDT- 2009/05/19 09:00
PHST- 2009/05/19 09:00 [entrez]
PHST- 2009/05/19 09:00 [pubmed]
PHST- 2009/09/24 06:00 [medline]
AID - 10.1002/ajmg.a.32714 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2009 Jul;149A(7):1468-75. doi: 10.1002/ajmg.a.32714.