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Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family.

Abstract

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septal defect (ASD), mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactyly of the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip. Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.

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  • Authors+Show Affiliations

    ,

    Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran. dr.hadipour@yahoo.com.

    , , ,

    Source

    Acta medica Iranica 51:12 2013 pg 907-9

    MeSH

    Abnormalities, Multiple
    Adult
    Female
    Humans
    Infant
    Iran
    Karyotyping
    Male
    Pedigree
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    24442548

    Citation

    Hadipour, Fatemeh, et al. "Fraccaro Syndrome: Report of Two Iranian Cases: an Infant and an Adult in a Family." Acta Medica Iranica, vol. 51, no. 12, 2013, pp. 907-9.
    Hadipour F, Shafeghati Y, Bagherizadeh E, et al. Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family. Acta Med Iran. 2013;51(12):907-9.
    Hadipour, F., Shafeghati, Y., Bagherizadeh, E., Behjati, F., & Hadipour, Z. (2013). Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family. Acta Medica Iranica, 51(12), pp. 907-9.
    Hadipour F, et al. Fraccaro Syndrome: Report of Two Iranian Cases: an Infant and an Adult in a Family. Acta Med Iran. 2013;51(12):907-9. PubMed PMID: 24442548.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family. AU - Hadipour,Fatemeh, AU - Shafeghati,Yousef, AU - Bagherizadeh,Eiman, AU - Behjati,Farkhondeh, AU - Hadipour,Zahra, PY - 2014/01/11/received PY - 2014/01/11/accepted PY - 2014/1/21/entrez PY - 2014/1/21/pubmed PY - 2014/9/16/medline SP - 907 EP - 9 JF - Acta medica Iranica JO - Acta Med Iran VL - 51 IS - 12 N2 - 49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septal defect (ASD), mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactyly of the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip. Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome. SN - 1735-9694 UR - https://www.unboundmedicine.com/medline/citation/24442548/Fraccaro_syndrome:_report_of_two_Iranian_cases:_an_infant_and_an_adult_in_a_family_ L2 - http://acta.tums.ac.ir/index.php/acta/article/view/4325 DB - PRIME DP - Unbound Medicine ER -