Contiguous ∼16Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

American Journal of Medical Genetics, Part A

Volumn 155, Issue 8, 2011, Pages 1964-1968

  Nicoulaz, A ^a   Rubi, F ^a   Lieder, L ^a   Wolf, R ^a   Goeggel Simonetti, B ^a   Steinlin, M ^a   Wiest, R ^b   Bonel, H M ^b   Schaller, A ^a   Gallati, S ^a   Conrad, B ^a,c  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c MCL Niederwangen ^*  (Switzerland)

Author keywords

1p36 monosomy; Array CGH; Critical distal 1p36.33 region; Haplo lethality; Neuronal migration disorders

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ARM; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HETEROZYGOTE; HUMAN; LETHALITY; MONOSOMY; MONOSOMY 1P36; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYNDROME; BRAIN DISEASE; CHROMOSOME 1; CHROMOSOME BREAKAGE; CHROMOSOME DISORDER; CONGENITAL MALFORMATION; CORPUS CALLOSUM AGENESIS; FATALITY; GENE DELETION; GENETIC ASSOCIATION; GENETICS; HYDRAMNIOS; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PREGNANCY; PREMATURITY; RESPIRATORY FAILURE; SEPTUM PELLUCIDUM;

ABNORMALITIES, MULTIPLE; AGENESIS OF CORPUS CALLOSUM; BRAIN DISEASES; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; FATAL OUTCOME; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT, NEWBORN; PHENOTYPE; POLYHYDRAMNIOS; PREGNANCY; PREMATURE BIRTH; RESPIRATORY INSUFFICIENCY; SEPTUM PELLUCIDUM;

EID: 79960555175     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33210     Document Type: Article

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