Linked Life Data

18795911

Source:http://linkedlifedata.com/resource/pubmed/id/18795911

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-12-17
pubmed:abstractText
Chromosome 10p terminal deletion accounts for a rare subset among patients presenting with DiGeorge syndrome, and is designated as DiGeorge 2 syndrome. We report a neonate with DiGeorge-like phenotype having a deletion of distal 10p (p13-pter) and a duplication of terminal 3q (q29-qter) derived from paternal balanced translocation between 3q29 and 10p13. She had facial dysmorphism, atrial and ventricular septal defect, impaired T-cell function, hypoparathyroidism, sensorineural hearing loss, renal abnormalities and developmental delay. Her phenotype corresponded well with the typical characteristics of partial monosomy 10p and the small duplication of terminal 3q did not involve the critical region of 3q duplication syndrome. Clinically, hypoparathyroidism-related hypocalcemia lasted for three weeks and resulted in repeated episodes of heart failure. It was not until the calcium level was normalized that her heart failure improved markedly. CONCLUSION: Cytogenetic analysis can help to recognize patients early on who have terminal 10p deletion when microdeletion of 22q11.2 is not the cause of DiGeorge syndrome. Hypoparathyroidism-related hypocalcemia impacts heart failure control in partial monosomy 10p and should be managed aggressively on critical care.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1651-2227
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
98
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
195-8
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Hypocalcemia impacts heart failure control in DiGeorge 2 syndrome.
pubmed:affiliation
Department of Pediatrics, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, 123 Ta-Pei Road, Niao-Sung Hsiang, Kaohsiung Hsien,Taiwan, R.O.C.
pubmed:publicationType
Journal Article, Case Reports