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Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
Eur J Med Genet. 2008 Nov-Dec; 51(6):658-65.EJ

Abstract

About 20% of cases with 7q deletion syndrome is associated with holoprosencephaly (HPE), due to deletion of the Sonic Hedgehog (SHH) gene (mapping to 7q36). The occurrence of severe forms of holoprosencephaly is higher in cases of 7q deletion associated with partial trisomies involving different parts of the genomes than in patients with pure 7q deletion. All cases of 7q deletion associated with 3p duplication reported to date have been associated with severe forms of holoprosencephaly, and a gene(s) on distal 3p has (have) been hypothesized to be responsible for HPE phenotype when in triple dose. Here we describe a patient with unbalanced 3p;7q translocation, showing 7q deletion (including SHH gene) and 3p duplication (complete karyotype was 46,XY,der(7)t(3;7)(p26.3;q36.1)), presenting with a relatively mild phenotype, consisting of microphthalmia and microcephaly, without cerebral anomalies typical of holoprosencephaly. Possible involvement of some genes on 3p in determining such a mild phenotype is discussed.

Authors+Show Affiliations

Department of Pediatrics, Federico II University, Naples, Italy. ginocchio@simail.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18762283

Citation

Ginocchio, Virginia M., et al. "Sonic Hedgehog Deletion and Distal Trisomy 3p in a Patient With Microphthalmia and Microcephaly, Lacking Cerebral Anomalies Typical of Holoprosencephaly." European Journal of Medical Genetics, vol. 51, no. 6, 2008, pp. 658-65.
Ginocchio VM, De Brasi D, Genesio R, et al. Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. Eur J Med Genet. 2008;51(6):658-65.
Ginocchio, V. M., De Brasi, D., Genesio, R., Ciccone, R., Gimelli, S., Fimiani, F., de Berardinis, T., Nitsch, L., Banfi, S., Magli, A., & Della Casa, R. (2008). Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. European Journal of Medical Genetics, 51(6), 658-65. https://doi.org/10.1016/j.ejmg.2008.07.011
Ginocchio VM, et al. Sonic Hedgehog Deletion and Distal Trisomy 3p in a Patient With Microphthalmia and Microcephaly, Lacking Cerebral Anomalies Typical of Holoprosencephaly. Eur J Med Genet. 2008 Nov-Dec;51(6):658-65. PubMed PMID: 18762283.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. AU - Ginocchio,Virginia M, AU - De Brasi,Daniele, AU - Genesio,Rita, AU - Ciccone,Roberto, AU - Gimelli,Stefania, AU - Fimiani,Francesco, AU - de Berardinis,Teresa, AU - Nitsch,Lucio, AU - Banfi,Sandro, AU - Magli,Adriano, AU - Della Casa,Roberto, Y1 - 2008/08/13/ PY - 2007/12/13/received PY - 2008/07/17/accepted PY - 2008/9/3/pubmed PY - 2009/3/11/medline PY - 2008/9/3/entrez SP - 658 EP - 65 JF - European journal of medical genetics JO - Eur J Med Genet VL - 51 IS - 6 N2 - About 20% of cases with 7q deletion syndrome is associated with holoprosencephaly (HPE), due to deletion of the Sonic Hedgehog (SHH) gene (mapping to 7q36). The occurrence of severe forms of holoprosencephaly is higher in cases of 7q deletion associated with partial trisomies involving different parts of the genomes than in patients with pure 7q deletion. All cases of 7q deletion associated with 3p duplication reported to date have been associated with severe forms of holoprosencephaly, and a gene(s) on distal 3p has (have) been hypothesized to be responsible for HPE phenotype when in triple dose. Here we describe a patient with unbalanced 3p;7q translocation, showing 7q deletion (including SHH gene) and 3p duplication (complete karyotype was 46,XY,der(7)t(3;7)(p26.3;q36.1)), presenting with a relatively mild phenotype, consisting of microphthalmia and microcephaly, without cerebral anomalies typical of holoprosencephaly. Possible involvement of some genes on 3p in determining such a mild phenotype is discussed. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/18762283/Sonic_Hedgehog_deletion_and_distal_trisomy_3p_in_a_patient_with_microphthalmia_and_microcephaly_lacking_cerebral_anomalies_typical_of_holoprosencephaly_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(08)00107-9 DB - PRIME DP - Unbound Medicine ER -