NDLI: 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

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17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

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17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Dixit, Abhijit Patel, Chirag Harrison, Rachel Jarvis, Joanna Hulton, Sally Smith, Nigel Yates, Katherine Silcock, Lee McMullan, Dominic J. Suri, Mohnish
Description	Country affiliation: United kingdom Author Affiliation: Dixit A ( Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK.)
Abstract	Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome.
File Format	HTM / HTML
ISSN	15524825
Issue Number	9
Volume Number	158A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 17 Child, Preschool Female Humans In Situ Hybridization, Fluorescence Infant Male Phenotype Syndrome Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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