PMID- 12079160
OWN - NLM
STAT- MEDLINE
DCOM- 20020718
LR  - 20150901
IS  - 2072-0939 (Print)
IS  - 2072-0939 (Linking)
VI  - 25
IP  - 4
DP  - 2002 Apr
TI  - Double partial monosomies (10p- and Xp-) in a female baby with choanal atresia.
PG  - 260-5
AB  - Chromosomal abnormalities involving double partial monosomies are very rare. A 
      female infant with non-mosaic monosomy 10p13-->10pter along with monosomy 
      Xp11.4-->Xpter which arose de novo is described. The clinical manifestations of 
      this patient included microcephaly, mild synophrys, short and down-slanted 
      palpebral fissures, ptosis of the left eye, long eyelashes, a depressed nasal 
      bridge, dysplastic ears, micrognathia, a short neck. sensorineural hearing 
      impairment, and severe growth retardation. Left choanal atresia and 
      laryngomalacia were detected by flexible fibroscopy. No signs of 
      hypoparathyroidism or defective cellular immunity could be found. Fluorescence in 
      situ hybridization (FISH) with whole-chromosome painting probes for chromosomes 
      10 and X was performed, which excluded the possibility of cryptic translocations 
      of the involved chromosome segments. No submicroscopic chromosome 22q11 deletion 
      could be found by FISH. Thus this very rare coexistence of double independent 
      partial monosomies was confirmed. There are no previous reports of such 
      concurrent double partial monosomies.
FAU - Hou, Jia-Woei
AU  - Hou JW
AD  - Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan, ROC. 
      houjw741@cgmh.org.tw
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Chang Gung Med J
JT  - Chang Gung medical journal
JID - 101088034
SB  - IM
MH  - Choanal Atresia/*genetics
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 10
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - *X Chromosome
EDAT- 2002/06/25 10:00
MHDA- 2002/07/19 10:01
CRDT- 2002/06/25 10:00
PHST- 2002/06/25 10:00 [pubmed]
PHST- 2002/07/19 10:01 [medline]
PHST- 2002/06/25 10:00 [entrez]
AID - 2504/250406 [pii]
PST - ppublish
SO  - Chang Gung Med J. 2002 Apr;25(4):260-5.