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A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?
Genet Couns. 1996; 7(1):53-9.GC

Abstract

We describe a 15-months-old female child with proximal 10q trisomy due to direct duplication 10q11 --> q223. Reviewing the literature a further delineation of the clinical phenotype of this rare chromosomal abnormality is proposed. The main clinical features associated with 10q11-q22 duplication are: mild to moderate mental retardation, microcephaly, postnatal growth retardation, ocular malformations, heart defects, abnormalities of the extremities and typical facies with thin, bowed upper lip, upturned nasal tip, high palate, small chin and everted ears.

Authors+Show Affiliations

van Buggenhout G
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
Decock P
No affiliation info available
Fryns JP
No affiliation info available

MeSH

Abnormalities, MultipleChromosome AberrationsChromosome BandingChromosome DisordersChromosomes, Human, Pair 10FaceFemaleHumansInfantIntellectual DisabilityMicrocephalyPhenotypeTrisomy

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8652089

Citation

van Buggenhout, G, et al. "A Distinct Phenotype Associated With Partial Trisomy 10q Due to Proximal Direct Duplication 10q11 --> Q223?" Genetic Counseling (Geneva, Switzerland), vol. 7, no. 1, 1996, pp. 53-9.
van Buggenhout G, Decock P, Fryns JP. A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223? Genet Couns. 1996;7(1):53-9.
van Buggenhout, G., Decock, P., & Fryns, J. P. (1996). A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223? Genetic Counseling (Geneva, Switzerland), 7(1), 53-9.
van Buggenhout G, Decock P, Fryns JP. A Distinct Phenotype Associated With Partial Trisomy 10q Due to Proximal Direct Duplication 10q11 --> Q223. Genet Couns. 1996;7(1):53-9. PubMed PMID: 8652089.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223? AU - van Buggenhout,G, AU - Decock,P, AU - Fryns,J P, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 53 EP - 9 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 7 IS - 1 N2 - We describe a 15-months-old female child with proximal 10q trisomy due to direct duplication 10q11 --> q223. Reviewing the literature a further delineation of the clinical phenotype of this rare chromosomal abnormality is proposed. The main clinical features associated with 10q11-q22 duplication are: mild to moderate mental retardation, microcephaly, postnatal growth retardation, ocular malformations, heart defects, abnormalities of the extremities and typical facies with thin, bowed upper lip, upturned nasal tip, high palate, small chin and everted ears. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/8652089/A_distinct_phenotype_associated_with_partial_trisomy_10q_due_to_proximal_direct_duplication_10q11___>_q223 L2 - http://www.diseaseinfosearch.org/result/1 DB - PRIME DP - Unbound Medicine ER -