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A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalitiesFurther delineation of the chromosome 14q terminal deletion syndromeInterstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination.Delineation of 14q32.3 deletion syndrome.Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.Identification of the chromosome 14 origin of a C-negative marker associated with a 14q32 deletion by chromosome painting.A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p.Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.A phenotype map for 14q32.3 terminal deletions.Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.
P2860
Q24514980-3CE7C46A-5DB7-43D1-B2A1-9E8F8B1F7E90Q28214580-635B0EA4-3A5B-4157-BD9C-9FD3B9E97E66Q30585260-F6CDEEB7-CF09-430C-8D72-29B44021EB65Q33679024-C09F993A-F5AA-4765-AE9C-C603260FDE1CQ34010175-10F435E6-FAFD-422E-A5B1-0329C648C2C2Q35195027-56CBB0C6-DDD3-4E2B-B385-8B436B31460FQ38512824-16897508-380C-4273-90AD-B3166CD4D80CQ40750796-CAC7545C-39DD-4A09-B202-B3BC4A0284B2Q41925987-7508A80C-6142-4983-A4E7-B364C942A7E5Q53175073-B7411148-EDD9-42A1-8FC4-6A50752FA2A8Q53655457-87392100-7514-4A8F-88D2-82628DF9F1A2Q53774366-EC0DF051-012D-4592-8C47-38F1D9C168D8
P2860
description
1990 nî lūn-bûn
@nan
1990 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Terminal deletion (14)(q32.3): a new case.
@ast
Terminal deletion (14)(q32.3): a new case.
@en
type
label
Terminal deletion (14)(q32.3): a new case.
@ast
Terminal deletion (14)(q32.3): a new case.
@en
prefLabel
Terminal deletion (14)(q32.3): a new case.
@ast
Terminal deletion (14)(q32.3): a new case.
@en
P2093
P2860
P356
P1476
Terminal deletion (14)(q32.3): a new case.
@en
P2093
P2860
P304
P356
10.1136/JMG.27.4.261
P407
P577
1990-04-01T00:00:00Z