PMID- 10964553
OWN - NLM
STAT- MEDLINE
DCOM- 20001012
LR  - 20111117
IS  - 1010-5182 (Print)
IS  - 1010-5182 (Linking)
VI  - 28
IP  - 3
DP  - 2000 Jun
TI  - 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.
PG  - 165-70
AB  - Chromosome 4p- syndrome is a multiple malformation syndrome associated with 
      partial deletion of the short arm of chromosome 4 (4p-). It is characterized by 
      dysmorphic features and retarded development. Cleft lip and/or palate are the 
      major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the 
      principal clinical manifestations of this condition are characteristic 
      craniofacial abnormalities, generalized hypotonia and severe mental retardation. 
      We present the first case of a female infant with 4p deletion and tetrasomy 9p 
      mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype 
      analysis of lymphocytes cultured from the patient revealed that she was mosaic: 
      86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) 
      (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either 
      translocation or partial proximal deletion of 4p. In order to make a definitive 
      cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ 
      hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, 
      her cleft lip was repaired. Before and after surgery there were no seizures, and 
      the postoperative course was uneventful.
CI  - Copyright 2000 European Association for Cranio-Maxillofacial Surgery.
FAU - Kobayashi, J
AU  - Kobayashi J
AD  - Maxillofacial Surgery, Graduate School, Tokyo Medical and Dental University, 
      Yushima, Tokyo, Japan.
FAU - Kimijima, Y
AU  - Kimijima Y
FAU - Yamada, S
AU  - Yamada S
FAU - Amagasa, T
AU  - Amagasa T
FAU - Saito-Ohara, F
AU  - Saito-Ohara F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Scotland
TA  - J Craniomaxillofac Surg
JT  - Journal of cranio-maxillo-facial surgery : official publication of the European 
      Association for Cranio-Maxillo-Facial Surgery
JID - 8704309
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Deletion
MH  - Chromosome Disorders
MH  - *Chromosomes, Human, Pair 4
MH  - *Chromosomes, Human, Pair 9
MH  - Cleft Lip/*genetics
MH  - Cleft Palate/*genetics
MH  - Female
MH  - Humans
MH  - Infant
MH  - Intellectual Disability/genetics
MH  - Isochromosomes
MH  - Karyotyping
MH  - Polyploidy
MH  - Syndrome
MH  - Translocation, Genetic
RF  - 18
EDAT- 2000/08/31 11:00
MHDA- 2000/10/14 11:01
CRDT- 2000/08/31 11:00
PHST- 2000/08/31 11:00 [pubmed]
PHST- 2000/10/14 11:01 [medline]
PHST- 2000/08/31 11:00 [entrez]
AID - S1010-5182(00)90126-4 [pii]
AID - 10.1054/jcms.2000.0126 [doi]
PST - ppublish
SO  - J Craniomaxillofac Surg. 2000 Jun;28(3):165-70. doi: 10.1054/jcms.2000.0126.