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Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion.
Eur J Med Genet 2014; 57(5):195-9EJ

Abstract

Insertions are rare chromosomal rearrangements resulting from a three breaks mechanism. The risk of chromosomal imbalance in the offspring is estimated to be 15-50%. We have identified a familial history of direct, paracentric intrachromosomal 9q insertion, balanced in healthy members. For intrachromosomal insertions, unbalanced products in the offspring are always recombinants and in our case, reciprocal deletion and duplication of the inserted segment (9q22.31-9q31.1) were observed. These imbalances involved several genes, including PTCH1. PTCH1 haploinsufficiency causes Gorlin syndrome, an autosomal dominant disorder usually linked to the gene mutation but sometimes due to a 9q deletion. Clinical findings are different in 9q deletions and duplications including PTCH1, notably concerning the predisposition to benign and malignant tumors reported in the Gorlin syndrome. Furthermore, some features may be reciprocal. This history of intrachromosomal insertion highlights the importance of morphological cytogenetic analyses to provide an accurate genetic counseling.

Authors+Show Affiliations

Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France.Laboratoire de Génétique Moléculaire, CHU Pontchaillou, Rennes, France; CNRS UMR 6290 (IGDR), Université de Rennes 1, France.Service de Génétique Médicale, CHU Hôpital Sud, Rennes, France.CNRS UMR 6290 (IGDR), Université de Rennes 1, France; Service de Génétique Médicale, CHU Hôpital Sud, Rennes, France.Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France.Service de Génétique Médicale, CHU Hôpital Sud, Rennes, France; Laboratoire d'Anatomie et Cytologie Pathologiques, CHU Pontchaillou, Rennes, France.Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France.Service de Génétique Médicale, CHU Hôpital Sud, Rennes, France.Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France.Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France; CNRS UMR 6290 (IGDR), Université de Rennes 1, France.Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France; CNRS UMR 6290 (IGDR), Université de Rennes 1, France.Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24486987

Citation

Blanchard, Marina, et al. "Postnatal Diagnosis of 9q Interstitial Imbalances Involving PTCH1, Resulting From a Familial Intrachromosomal Insertion." European Journal of Medical Genetics, vol. 57, no. 5, 2014, pp. 195-9.
Blanchard M, Dubourg C, Pasquier L, et al. Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion. Eur J Med Genet. 2014;57(5):195-9.
Blanchard, M., Dubourg, C., Pasquier, L., Odent, S., Lucas, J., Quélin, C., ... Jaillard, S. (2014). Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion. European Journal of Medical Genetics, 57(5), pp. 195-9. doi:10.1016/j.ejmg.2013.12.010.
Blanchard M, et al. Postnatal Diagnosis of 9q Interstitial Imbalances Involving PTCH1, Resulting From a Familial Intrachromosomal Insertion. Eur J Med Genet. 2014;57(5):195-9. PubMed PMID: 24486987.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion. AU - Blanchard,Marina, AU - Dubourg,Christèle, AU - Pasquier,Laurent, AU - Odent,Sylvie, AU - Lucas,Josette, AU - Quélin,Chloé, AU - Launay,Erika, AU - Akloul,Linda, AU - Henry,Catherine, AU - Belaud-Rotureau,Marc-Antoine, AU - Dugay,Frédéric, AU - Jaillard,Sylvie, Y1 - 2014/01/31/ PY - 2013/08/07/received PY - 2013/12/31/accepted PY - 2014/2/4/entrez PY - 2014/2/4/pubmed PY - 2014/12/15/medline KW - Array-CGH KW - Chromosome 9 KW - Interstitial deletion KW - Interstitial duplication KW - Intrachromosomal paracentric direct insertion SP - 195 EP - 9 JF - European journal of medical genetics JO - Eur J Med Genet VL - 57 IS - 5 N2 - Insertions are rare chromosomal rearrangements resulting from a three breaks mechanism. The risk of chromosomal imbalance in the offspring is estimated to be 15-50%. We have identified a familial history of direct, paracentric intrachromosomal 9q insertion, balanced in healthy members. For intrachromosomal insertions, unbalanced products in the offspring are always recombinants and in our case, reciprocal deletion and duplication of the inserted segment (9q22.31-9q31.1) were observed. These imbalances involved several genes, including PTCH1. PTCH1 haploinsufficiency causes Gorlin syndrome, an autosomal dominant disorder usually linked to the gene mutation but sometimes due to a 9q deletion. Clinical findings are different in 9q deletions and duplications including PTCH1, notably concerning the predisposition to benign and malignant tumors reported in the Gorlin syndrome. Furthermore, some features may be reciprocal. This history of intrachromosomal insertion highlights the importance of morphological cytogenetic analyses to provide an accurate genetic counseling. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/24486987/Postnatal_diagnosis_of_9q_interstitial_imbalances_involving_PTCH1_resulting_from_a_familial_intrachromosomal_insertion_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(14)00015-9 DB - PRIME DP - Unbound Medicine ER -