PMID- 9461360
OWN - NLM
STAT- MEDLINE
DCOM- 19980317
LR  - 20190814
IS  - 0340-6199 (Print)
IS  - 0340-6199 (Linking)
VI  - 157
IP  - 1
DP  - 1998 Jan
TI  - Clinical characteristics of children with hypoparathyroidism due to 22q11.2 
      microdeletion.
PG  - 34-8
AB  - The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among 
      individuals and hypoparathyroidism (HP) constitutes a definite portion of the 
      clinical spectrum. For the correct diagnosis and pertinent follow up of the HP 
      children due to del22q11.2, we tried to delineate the clinical characteristics of 
      such patients. By employing fluorescence in situ hybridization (FISH) to all the 
      patients diagnosed as HP in our clinic, ten possessed the 22q11.2 microdeletion. 
      Among them, the incidence of cardiac defect (5/10), recurrent infection (1/10) 
      and cleft palate (1/10) was modest. Additionally, seven of them had been 
      diagnosed as HP during the infantile period, when their facial abnormality and 
      intellectual problem had not become evident. Notably, two patients were 
      complicated by Graves disease, while the association of idiopathic 
      thrombocytopenic purpura was also observed in two girls. CONCLUSION: HP due to 
      del22q11.2 may be misdiagnosed as idiopathic, especially in an infant who lacks 
      apparent complications like cardiac anomaly. They should be closely followed up 
      for auto-immune complications.
FAU - Adachi, M
AU  - Adachi M
AD  - Department of Endocrinology and Metabolism, Kanagawa Children's Medical Centre, 
      Yokohama, Japan.
FAU - Tachibana, K
AU  - Tachibana K
FAU - Masuno, M
AU  - Masuno M
FAU - Makita, Y
AU  - Makita Y
FAU - Maesaka, H
AU  - Maesaka H
FAU - Okada, T
AU  - Okada T
FAU - Hizukuri, K
AU  - Hizukuri K
FAU - Imaizumi, K
AU  - Imaizumi K
FAU - Kuroki, Y
AU  - Kuroki Y
FAU - Kurahashi, H
AU  - Kurahashi H
FAU - Suwa, S
AU  - Suwa S
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Eur J Pediatr
JT  - European journal of pediatrics
JID - 7603873
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Cleft Palate/diagnosis/genetics
MH  - DiGeorge Syndrome/diagnosis/genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Heart Defects, Congenital/diagnosis/genetics
MH  - Humans
MH  - Hypoparathyroidism/diagnosis/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Retrospective Studies
EDAT- 1998/02/14 00:00
MHDA- 1998/02/14 00:01
CRDT- 1998/02/14 00:00
PHST- 1998/02/14 00:00 [pubmed]
PHST- 1998/02/14 00:01 [medline]
PHST- 1998/02/14 00:00 [entrez]
AID - 10.1007/s004310050762 [doi]
PST - ppublish
SO  - Eur J Pediatr. 1998 Jan;157(1):34-8. doi: 10.1007/s004310050762.