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Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin).

Abstract

Patient no 1, a boy, was carrier of a de novo del (14) (pter- greater than q23::q32- greater than qter). Patient no 2, a boy, had a de novo del (14) (pter- greater than q23::q24.2- greater than qter). Common dysmorphisms included bushy eyebrows, frontal bossing, and micrognathia. Patient no 2 had features of Holt-Oram syndrome, i.e. congenital heart defect and severe ulnar defect. Patient no 1 had congenital heart defect but no typical osseous disorders. The association of Holt-Oram syndrome and del 14q24.1 is stressed. Patient no 1 was heterozygous for Pl (alpha-1-antitrypsin) phenotypes. The gene locus could thus be excluded from q24 and q31, and tentatively assigned to q32.1.

Authors

, , , , , , ,

Source

Annales de genetique 27:4 1984 pg 237-40

MeSH

Abnormalities, Multiple
Child, Preschool
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, 13-15
Humans
Karyotyping
Male
Phenotype
alpha 1-Antitrypsin

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6335371

Citation

Turleau, C, et al. "Two Patients With Interstitial Del (14q), One With Features of Holt-Oram Syndrome. Exclusion Mapping of PI (alpha-1-antitrypsin)." Annales De Genetique, vol. 27, no. 4, 1984, pp. 237-40.
Turleau C, de Grouchy J, Chavin-Colin F, et al. Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). Ann Genet. 1984;27(4):237-40.
Turleau, C., de Grouchy, J., Chavin-Colin, F., Dore, F., Seger, J., Dautzenberg, M. D., ... Jeanson, C. (1984). Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). Annales De Genetique, 27(4), pp. 237-40.
Turleau C, et al. Two Patients With Interstitial Del (14q), One With Features of Holt-Oram Syndrome. Exclusion Mapping of PI (alpha-1-antitrypsin). Ann Genet. 1984;27(4):237-40. PubMed PMID: 6335371.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). AU - Turleau,C, AU - de Grouchy,J, AU - Chavin-Colin,F, AU - Dore,F, AU - Seger,J, AU - Dautzenberg,M D, AU - Arthuis,M, AU - Jeanson,C, PY - 1984/1/1/pubmed PY - 1984/1/1/medline PY - 1984/1/1/entrez SP - 237 EP - 40 JF - Annales de genetique JO - Ann. Genet. VL - 27 IS - 4 N2 - Patient no 1, a boy, was carrier of a de novo del (14) (pter- greater than q23::q32- greater than qter). Patient no 2, a boy, had a de novo del (14) (pter- greater than q23::q24.2- greater than qter). Common dysmorphisms included bushy eyebrows, frontal bossing, and micrognathia. Patient no 2 had features of Holt-Oram syndrome, i.e. congenital heart defect and severe ulnar defect. Patient no 1 had congenital heart defect but no typical osseous disorders. The association of Holt-Oram syndrome and del 14q24.1 is stressed. Patient no 1 was heterozygous for Pl (alpha-1-antitrypsin) phenotypes. The gene locus could thus be excluded from q24 and q31, and tentatively assigned to q32.1. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/6335371/Two_patients_with_interstitial_del__14q__one_with_features_of_Holt_Oram_syndrome__Exclusion_mapping_of_PI__alpha_1_antitrypsin__ L2 - http://www.diseaseinfosearch.org/result/3457 DB - PRIME DP - Unbound Medicine ER -