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22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Abstract

Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to have a chromosome duplication 22q11 of the region that is deleted in patients with DG/VCFS. The reported cases have been identified primarily by interphase FISH and could have escaped identification and been missed by routine cytogenetic analysis. Here we report on two inherited cases, referred to us, to rule out 22q11 microdeletion diagnosis of VCFS. The first patient was a 2-month-old girl, who presented with cleft palate, minor dysmorphic features including short palpebral fissures, widely spaced eyes, long fingers, and hearing loss. Her affected mother had mild mental retardation and learning disabilities. The second patient was a 7(1/2)-year-old boy with velopharyngeal insufficiency and mild developmental delay. He had a left preauricular tag, bifida uvula, bilateral fifth finger clinodactyly, and bilateral cryptorchidism. His facial features appeared mildly dysmorphic with hypertelorism, large nose, and micro/retrognathia. The affected father had mild mental retardation and had similar facial features. FISH analysis of interphase cells showed three TUPLE1-probe signals with two chromosome-specific identification probes in each cell. FISH analysis did not show the duplication on the initial testing of metaphase chromosomes. On review, band q11.2 was brighter on one chromosome 22 in some metaphase spreads. The paucity of reported cases of 22q11.2 microduplication likely reflects a combination of phenotypic diversity and the difficulty of diagnosis by FISH analysis on metaphase spreads. These findings illustrate the importance of scanning interphase nuclei when performing FISH analysis for any of the genomic disorders.

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  • Authors+Show Affiliations

    ,

    Laboratoire de Cytogénétique, Hopital Saint-Antoine AP-HP, Paris, France. marie-france.portnoi@sat.ap-hop-paris.fr

    , , , , , , , , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Child
    Chromosome Aberrations
    Chromosome Banding
    Chromosomes, Human, Pair 22
    DiGeorge Syndrome
    Diagnosis, Differential
    Face
    Family Health
    Female
    Gene Duplication
    Heart Defects, Congenital
    Humans
    In Situ Hybridization, Fluorescence
    Infant
    Karyotyping
    Male
    Syndrome
    Velopharyngeal Insufficiency

    Pub Type(s)

    Case Reports
    Journal Article
    Review

    Language

    eng

    PubMed ID

    16007629

    Citation

    Portnoï, Marie-France, et al. "22q11.2 Duplication Syndrome: Two New Familial Cases With some Overlapping Features With DiGeorge/velocardiofacial Syndromes." American Journal of Medical Genetics. Part A, vol. 137, no. 1, 2005, pp. 47-51.
    Portnoï MF, Lebas F, Gruchy N, et al. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet A. 2005;137(1):47-51.
    Portnoï, M. F., Lebas, F., Gruchy, N., Ardalan, A., Biran-Mucignat, V., Malan, V., ... Marlin, S. (2005). 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. American Journal of Medical Genetics. Part A, 137(1), pp. 47-51.
    Portnoï MF, et al. 22q11.2 Duplication Syndrome: Two New Familial Cases With some Overlapping Features With DiGeorge/velocardiofacial Syndromes. Am J Med Genet A. 2005 Aug 15;137(1):47-51. PubMed PMID: 16007629.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. AU - Portnoï,Marie-France, AU - Lebas,Fanny, AU - Gruchy,Nicolas, AU - Ardalan,Azarnouche, AU - Biran-Mucignat,Valérie, AU - Malan,Valérie, AU - Finkel,Lina, AU - Roger,Gilles, AU - Ducrocq,Sarah, AU - Gold,Francis, AU - Taillemite,Jean-Louis, AU - Marlin,Sandrine, PY - 2005/7/12/pubmed PY - 2005/8/23/medline PY - 2005/7/12/entrez SP - 47 EP - 51 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 137 IS - 1 N2 - Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to have a chromosome duplication 22q11 of the region that is deleted in patients with DG/VCFS. The reported cases have been identified primarily by interphase FISH and could have escaped identification and been missed by routine cytogenetic analysis. Here we report on two inherited cases, referred to us, to rule out 22q11 microdeletion diagnosis of VCFS. The first patient was a 2-month-old girl, who presented with cleft palate, minor dysmorphic features including short palpebral fissures, widely spaced eyes, long fingers, and hearing loss. Her affected mother had mild mental retardation and learning disabilities. The second patient was a 7(1/2)-year-old boy with velopharyngeal insufficiency and mild developmental delay. He had a left preauricular tag, bifida uvula, bilateral fifth finger clinodactyly, and bilateral cryptorchidism. His facial features appeared mildly dysmorphic with hypertelorism, large nose, and micro/retrognathia. The affected father had mild mental retardation and had similar facial features. FISH analysis of interphase cells showed three TUPLE1-probe signals with two chromosome-specific identification probes in each cell. FISH analysis did not show the duplication on the initial testing of metaphase chromosomes. On review, band q11.2 was brighter on one chromosome 22 in some metaphase spreads. The paucity of reported cases of 22q11.2 microduplication likely reflects a combination of phenotypic diversity and the difficulty of diagnosis by FISH analysis on metaphase spreads. These findings illustrate the importance of scanning interphase nuclei when performing FISH analysis for any of the genomic disorders. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/16007629/22q11_2_duplication_syndrome:_two_new_familial_cases_with_some_overlapping_features_with_DiGeorge/velocardiofacial_syndromes_ L2 - https://doi.org/10.1002/ajmg.a.30847 DB - PRIME DP - Unbound Medicine ER -