Tags

Type your tag names separated by a space and hit enter

Acro-cardio-facial syndrome: a microdeletion syndrome?
Am J Med Genet A. 2012 Aug; 158A(8):1994-9.AJ

Abstract

Acro-cardio-facial syndrome (ACFS) is an infrequently reported, variable condition characterized by split-hand and split-foot malformation and congenital heart defect (CHD), along with cleft lip and palate, genital anomalies, unusual face and intellectual disability. An autosomal recessive pattern of inheritance has been suggested because of affected sibs born to unaffected parents and parental consanguinity; the cause is unknown. We describe a newborn with the clinical manifestations of ACFS in whom a deletion of the region 6q21-q22.3 was detected by array CGH. We compare the clinical features of the present patient with earlier reported patients with similar 6q deletions and patients diagnosed with ACFS. The similarities between these patient groups suggest that ACFS may be a microdeletion syndrome caused by loss of the 6q21-22.3 region. The recurrence in families may be explained by prenatal germline mosaicism. Alternatively, ACFS may be a genetically heterogeneous disorder which can also be caused by biallelic mutations of an autosomal recessive gene.

Authors+Show Affiliations

U.O. Laboratorio Genetica Medica, Santa Chiara Hospital, Pisa, Italy. b.toschi@ao-pisa.toscana.itNo 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

22740423

Citation

Toschi, Benedetta, et al. "Acro-cardio-facial Syndrome: a Microdeletion Syndrome?" American Journal of Medical Genetics. Part A, vol. 158A, no. 8, 2012, pp. 1994-9.
Toschi B, Valetto A, Bertini V, et al. Acro-cardio-facial syndrome: a microdeletion syndrome? Am J Med Genet A. 2012;158A(8):1994-9.
Toschi, B., Valetto, A., Bertini, V., Congregati, C., Cantinotti, M., Assanta, N., & Simi, P. (2012). Acro-cardio-facial syndrome: a microdeletion syndrome? American Journal of Medical Genetics. Part A, 158A(8), 1994-9. https://doi.org/10.1002/ajmg.a.35444
Toschi B, et al. Acro-cardio-facial Syndrome: a Microdeletion Syndrome. Am J Med Genet A. 2012;158A(8):1994-9. PubMed PMID: 22740423.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acro-cardio-facial syndrome: a microdeletion syndrome? AU - Toschi,Benedetta, AU - Valetto,Angelo, AU - Bertini,Veronica, AU - Congregati,Caterina, AU - Cantinotti,Massimiliano, AU - Assanta,Nadia, AU - Simi,Paolo, Y1 - 2012/06/27/ PY - 2012/02/03/received PY - 2012/04/07/accepted PY - 2012/6/29/entrez PY - 2012/6/29/pubmed PY - 2012/11/6/medline SP - 1994 EP - 9 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 158A IS - 8 N2 - Acro-cardio-facial syndrome (ACFS) is an infrequently reported, variable condition characterized by split-hand and split-foot malformation and congenital heart defect (CHD), along with cleft lip and palate, genital anomalies, unusual face and intellectual disability. An autosomal recessive pattern of inheritance has been suggested because of affected sibs born to unaffected parents and parental consanguinity; the cause is unknown. We describe a newborn with the clinical manifestations of ACFS in whom a deletion of the region 6q21-q22.3 was detected by array CGH. We compare the clinical features of the present patient with earlier reported patients with similar 6q deletions and patients diagnosed with ACFS. The similarities between these patient groups suggest that ACFS may be a microdeletion syndrome caused by loss of the 6q21-22.3 region. The recurrence in families may be explained by prenatal germline mosaicism. Alternatively, ACFS may be a genetically heterogeneous disorder which can also be caused by biallelic mutations of an autosomal recessive gene. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/22740423/Acro_cardio_facial_syndrome:_a_microdeletion_syndrome L2 - https://doi.org/10.1002/ajmg.a.35444 DB - PRIME DP - Unbound Medicine ER -