PMID- 16470789
OWN - NLM
STAT- MEDLINE
DCOM- 20060530
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 5
DP  - 2006 Mar 1
TI  - Characterization of two supernumerary marker chromosomes in a patient with signs 
      of Klinefelter syndrome, mild facial anomalies, and severe speech delay.
PG  - 488-95
AB  - A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and 
      severely retarded speech development displayed a female karyotype with mosaicism 
      for two marker chromosomes 
      48,XX,+mar1,+mar2[68]/47,XX,+mar1[19]/47,XX,+mar2[6]/46,XX[8]. Using chromosomal 
      microdissection, locus-specific fluorescence in situ hybridization (FISH), and 
      PCR with several Y-chromosome markers, the larger supernumerary marker chromosome 
      (SMC) was characterized as a ring Y-chromosome. Detection of the SRY-region 
      explained the male phenotype. The smaller second marker chromosome contained the 
      pericentromeric region of chromosome 8. We suggest that the co-occurrence of a 
      partial Y-chromosome and partial trisomy 8 explain the severe speech delay and 
      the facial dysmorphic features.
FAU - Weimer, Jorg
AU  - Weimer J
AD  - Clinic of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, 
      Campus Kiel, Kiel, Germany. jweimer@email.uni-kiel.de
FAU - Metzke-Heidemann, Simone
AU  - Metzke-Heidemann S
FAU - Plendl, Hansjorg
AU  - Plendl H
FAU - Caliebe, Almuth
AU  - Caliebe A
FAU - Grunewald, Regina
AU  - Grunewald R
FAU - Ounap, Katrin
AU  - Ounap K
FAU - Tammur, Pille
AU  - Tammur P
FAU - Jonat, Walter
AU  - Jonat W
FAU - Bartsch, Oliver
AU  - Bartsch O
FAU - Siebert, Reiner
AU  - Siebert R
FAU - Arnold, Norbert
AU  - Arnold N
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  - Adolescent
MH  - Child
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Chromosomes, Human, Y/genetics
MH  - Face/*abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Klinefelter Syndrome/*pathology
MH  - Male
MH  - *Ring Chromosomes
MH  - Speech Disorders/*pathology
EDAT- 2006/02/14 09:00
MHDA- 2006/05/31 09:00
CRDT- 2006/02/14 09:00
PHST- 2006/02/14 09:00 [pubmed]
PHST- 2006/05/31 09:00 [medline]
PHST- 2006/02/14 09:00 [entrez]
AID - 10.1002/ajmg.a.31104 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Mar 1;140(5):488-95. doi: 10.1002/ajmg.a.31104.