Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and dig...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 55; no. 1; p. 30
Main Authors Levin, M L, Shaffer, L G, Lewis RAp6, Gresik, M V, Lupski, J R
Format Journal Article
LanguageEnglish
Published United States 02.01.1995
Subjects
Abnormalities, Multiple - genetics
Adult
Bone and Bones - abnormalities
Chromosome Deletion
Chromosomes, Human, Pair 17
Face - abnormalities
Fatal Outcome
Female
Humans
Infant, Newborn
Pharynx - abnormalities
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Summary:We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient's phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion.
ISSN:0148-7299
DOI:10.1002/ajmg.1320550110