PMID- 18679767
OWN - NLM
STAT- MEDLINE
DCOM- 20081118
LR  - 20220408
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 53
IP  - 10
DP  - 2008
TI  - Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.
PG  - 941-946
LID - 10.1007/s10038-008-0326-7 [doi]
AB  - This is a report of a 27-year-old woman with an unusual de novo chromosomal 
      abnormality. Mosaicism was identified in peripheral blood cells examined by 
      standard G-bands by trypsin using Giemsa (GTG) analysis and fluorescence in situ 
      hybridization (FISH) analysis with chromosome-18 region-specific probes, 
      46,XX,del(18)(pter --> q21.33:)[41], 46,XX,r(18)(::p11.21 --> q21.33::)[8], and 
      46,XX,der(18)(pter --> q21.33::p11.21 --> pter)[1]. On the other hand, the 
      karyotype of periodontal ligament fibroblasts was nonmosaic, 46,XX, der(18)(pter 
      --> q21.33::p11.21 --> pter)[50]. All cell lines appeared to be missing a portion 
      of 18q (q21.33 --> qter). The pattern of the dup(18p)/del(18q) in the rod 
      configuration raises the possibility of an inversion in chromosome 18 in one of 
      the parents. However, no chromosomal anomaly was detected in either parent. The 
      most probable explanation is that de novo rod and ring configurations arose 
      simultaneously from an intrachromosomal exchange. The unique phenotype of this 
      patient, which included primary hypothyroidism and primary hypogonadism, is 
      discussed in relation to her karyotype.
FAU - Gereltzul, Enkhtuvshin
AU  - Gereltzul E
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
FAU - Baba, Yoshiyuki
AU  - Baba Y
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan. 
      y-baba.mort@tmd.ac.jp.
FAU - Suda, Naoto
AU  - Suda N
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
FAU - Shiga, Momotoshi
AU  - Shiga M
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
FAU - Inoue, Maristela Sayuri
AU  - Inoue MS
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
FAU - Tsuji, Michiko
AU  - Tsuji M
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
FAU - Shin, Insik
AU  - Shin I
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
FAU - Hirata, Yukio
AU  - Hirata Y
AD  - Clinical and Molecular Endocrinology, Graduate School, Tokyo Medical and Dental 
      University, Tokyo, Japan.
FAU - Ohyama, Kimie
AU  - Ohyama K
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
FAU - Moriyama, Keiji
AU  - Moriyama K
AD  - Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental 
      University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20080805
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
SB  - IM
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Female
MH  - Humans
MH  - Hypogonadism/*genetics
MH  - Hypothyroidism/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - *Mosaicism
EDAT- 2008/08/06 09:00
MHDA- 2008/11/19 09:00
CRDT- 2008/08/06 09:00
PHST- 2007/03/29 00:00 [received]
PHST- 2008/07/08 00:00 [accepted]
PHST- 2008/08/06 09:00 [pubmed]
PHST- 2008/11/19 09:00 [medline]
PHST- 2008/08/06 09:00 [entrez]
AID - 10.1007/s10038-008-0326-7 [pii]
AID - 10.1007/s10038-008-0326-7 [doi]
PST - ppublish
SO  - J Hum Genet. 2008;53(10):941-946. doi: 10.1007/s10038-008-0326-7. Epub 2008 Aug 
      5.