Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome-Reference-Cited by-同舟云学术

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome

Published:2017-05-10 Issue:7 Volume:173 Page:1943-1946
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alesi Viola¹^ORCID,Dentici Maria L.¹^ORCID,Restaldi Fabrizia¹,Orlando Valeria¹,Liambo Maria T.¹,Calacci Chiara¹,Capolino Rossella¹,Digilio Maria C.¹,El Hachem May²,Novelli Antonio¹,Diociaiuti Andrea²,Dallapiccola Bruno¹

Affiliation:

1. Genetics and Rare Diseases Research Division; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

2. Dermatology Division; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Detection of low-level mosaicism by array CGH in routine diagnostic specimens;Ballif;American Journal of Medical Genetics Part A,2006

2. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: Extraordinary finding of an analphoid, inverted duplicated marker;Dufke;European Journal of Human Genetics,2001

3. Dermatologic features in Pallister-Killian syndrome and their importance to the diagnosis;Guareschi;Pediatric Dermatology,2007

4. Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis;Hartmann;Pediatric Dermatology,2004

5. Mosaicism in Human Skin

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