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Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Abstract

We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified.

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  • Authors+Show Affiliations

    ,

    Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

    , , , , , , , , , , , , , , , , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Cerebellum
    Child
    Child, Preschool
    Chromosome Banding
    Chromosome Deletion
    Chromosomes, Human, Pair 16
    Chromosomes, Human, Pair 6
    Craniofacial Abnormalities
    Diagnosis, Differential
    Family Health
    Fatal Outcome
    Female
    Fetal Death
    Heart Defects, Congenital
    Humans
    In Situ Hybridization, Fluorescence
    Karyotyping
    Male
    Phenotype
    Syndrome
    Telomere
    Translocation, Genetic

    Pub Type(s)

    Case Reports
    Journal Article
    Research Support, U.S. Gov't, P.H.S.
    Review

    Language

    eng

    PubMed ID

    15704124

    Citation

    Descipio, Cheryl, et al. "Subtelomeric Deletions of Chromosome 6p: Molecular and Cytogenetic Characterization of Three New Cases With Phenotypic Overlap With Ritscher-Schinzel (3C) Syndrome." American Journal of Medical Genetics. Part A, vol. 134A, no. 1, 2005, pp. 3-11.
    Descipio C, Schneider L, Young TL, et al. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A. 2005;134A(1):3-11.
    Descipio, C., Schneider, L., Young, T. L., Wasserman, N., Yaeger, D., Lu, F., ... Krantz, I. D. (2005). Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. American Journal of Medical Genetics. Part A, 134A(1), pp. 3-11.
    Descipio C, et al. Subtelomeric Deletions of Chromosome 6p: Molecular and Cytogenetic Characterization of Three New Cases With Phenotypic Overlap With Ritscher-Schinzel (3C) Syndrome. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. PubMed PMID: 15704124.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. AU - Descipio,Cheryl, AU - Schneider,Lori, AU - Young,Terri L, AU - Wasserman,Nora, AU - Yaeger,Dinah, AU - Lu,Fengmin, AU - Wheeler,Patricia G, AU - Williams,Marc S, AU - Bason,Lynn, AU - Jukofsky,Lori, AU - Menon,Ammini, AU - Geschwindt,Ryan, AU - Chudley,Albert E, AU - Saraiva,Jorge, AU - Schinzel,Albert A G L, AU - Guichet,Agnes, AU - Dobyns,William E, AU - Toutain,Annick, AU - Spinner,Nancy B, AU - Krantz,Ian D, PY - 2005/2/11/pubmed PY - 2005/5/10/medline PY - 2005/2/11/entrez SP - 3 EP - 11 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 134A IS - 1 N2 - We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15704124/Subtelomeric_deletions_of_chromosome_6p:_molecular_and_cytogenetic_characterization_of_three_new_cases_with_phenotypic_overlap_with_Ritscher_Schinzel__3C__syndrome_ L2 - https://doi.org/10.1002/ajmg.a.30573 DB - PRIME DP - Unbound Medicine ER -