title: Familial Poland anomaly revisited.
abstract: Poland anomaly (PA) is a pectoral muscle hypoplasia/aplasia variably associated with ipsilateral thoracic (TA) and/or upper limb anomalies (ULA). PA is usually sporadic and sometimes familial, making recurrence risk an issue in genetic counseling. Multidisciplinary evaluation of 240 PA patients was carried out, including physical examination of patients and their parents in 190 PA (subjects of the study). Familial conditions were classified into three groups. Group1: true familial PA (F-PA): pectoral muscle defects with familial recurrence: 8(4.2%). Group2: familial Poland-like anomaly families (F-PLA): PA index case and ≥1 relative(s) showing normal pectoral muscles but ULA and/or TA common in PA: 16(8.4%). Group3: sporadic PA (S-PA): 166(87.4%). F-PA indicated a stronger male (87.5%) and left side (62.5%) prevalence, but fewer ULA (37.5%) compared to the other two groups. Maternal transmission (6/8) was more common in F-PA. Statistical significance was not reached due to the small number of F-PA and F-PLA. Karyotyping and array-comparative genomic hybridization were performed in 13 families. Three maternally inherited copy number variants were identified in three patients: 1p31.1 deletion, Xp11.22 duplication, and 16q23.1 duplication. Interestingly, the proband's mother carrying the 16q23.1 duplication displayed moderate breast and areola asymmetry, but normal pectoral muscles on ultrasound. Though there is no recent review discussing recurrence of PA, we reviewed 31 published PA families. On the basis of our study and previous reports, familial PA is not uncommon. Nonetheless, no information can be derived either regarding a molecular basis or clinical tools with which to identify cases with recurrence risk.
authors: Cardiology and Cardiosurgical Department, Bambino Gesù Pediatric Hospital, Rome, Italy. anwar.baban@opbg.net
authors: Anwar
authors: A
authors: Baban
authors: Michele
authors: M
authors: Torre
authors: Sara
authors: S
authors: Costanzo
authors: Stefania
authors: S
authors: Gimelli
authors: Sebastiano
authors: S
authors: Bianca
authors: Maria Teresa
authors: MT
authors: Divizia
authors: Filippo Maria
authors: FM
authors: Sénès
authors: Livia
authors: L
authors: Garavelli
authors: Francesca
authors: F
authors: Rivieri
authors: Margherita
authors: M
authors: Lerone
authors: Maura
authors: M
authors: Valle
authors: Roberto
authors: R
authors: Ravazzolo
authors: Maria Grazia
authors: MG
authors: Calevo
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D055028:Comparative Genomic Hybridization; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D056915:DNA Copy Number Variations; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010369:Pectoralis Muscles / Q000002:abnormalities; D010375:Pedigree; D011045:Poland Syndrome / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004247:DNA