PMID- 26489877
OWN - NLM
STAT- MEDLINE
DCOM- 20170102
LR  - 20181113
IS  - 0972-2823 (Electronic)
IS  - 0022-3859 (Print)
IS  - 0022-3859 (Linking)
VI  - 62
IP  - 2
DP  - 2016 Apr-Jun
TI  - "FISHed" out the diagnosis: A case of DiGeorge syndrome.
PG  - 118-23
LID - 10.4103/0022-3859.167730 [doi]
AB  - Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot), 
      hypocalcemia, hypoparathyroidism, and facial dysmorphisms. Suspecting DiGeorge 
      syndrome (DGS), a fluorescence in situ hybridization (FISH) analysis for 22q11.2 
      deletion was made. The child had a hemizygous deletion in the 22q11.2 region, 
      diagnostic of DGS. Unfortunately, the patient succumbed to the heart disease. DGS 
      is the most common microdeletion syndrome, and probably underrecognized due to 
      the varied manifestations. This case stresses the importance of a detailed 
      physical examination and a high index of suspicion for diagnosing this genetic 
      condition. Timely diagnosis can help manage and monitor these patients better and 
      also offer prenatal diagnosis in the next pregnancy.
FAU - Bajaj, S
AU  - Bajaj S
FAU - Thombare, T S
AU  - Thombare TS
FAU - Tullu, M S
AU  - Tullu MS
AD  - Department of Pediatrics, Seth Gordhandas Sunderdas Medical College and King 
      Edward Memorial Hospital, Mumbai, Maharashtra, India.
FAU - Agrawal, M
AU  - Agrawal M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - India
TA  - J Postgrad Med
JT  - Journal of postgraduate medicine
JID - 2985196R
SB  - IM
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/*diagnosis/genetics
MH  - Fatal Outcome
MH  - Female
MH  - Heart Defects, Congenital/etiology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Pregnancy
PMC - PMC4944343
EDAT- 2015/10/23 06:00
MHDA- 2017/01/04 06:00
PMCR- 2016/04/01
CRDT- 2015/10/23 06:00
PHST- 2015/10/23 06:00 [entrez]
PHST- 2015/10/23 06:00 [pubmed]
PHST- 2017/01/04 06:00 [medline]
PHST- 2016/04/01 00:00 [pmc-release]
AID - 167730 [pii]
AID - JPGM-62-118 [pii]
AID - 10.4103/0022-3859.167730 [doi]
PST - ppublish
SO  - J Postgrad Med. 2016 Apr-Jun;62(2):118-23. doi: 10.4103/0022-3859.167730.