Fig. 1

Summary of clinical and genetic findings in the presented family. a Pedigree of FA family. Squares—males, circles—females, open—unaffected individuals, filled—affected individuals, half filled—carriers of deletion or mutation. MMC+/− = positive or negative result of MMC test, aCGH+/− = presence or absence of heterozygous deletion encompassing FANCA gene detected by aCGH, FANCA+/− = presence or absence of mutation in FANCA gene detected by NGS, Ca/Ca? = presence or possible presence of cancer. Black arrow indicates the proband. b–c Congenital anomalies in siblings with FA. B—short stature, posture defect, extra thumb and pes plano-valgi in patient 1 (IV.3). C—large short neck, corrected extra thumb, and cafe-au-lait spots in patient 2 (IV.4). d–e Metaphase spreads in patients 1 (d) and 2 (e)—MMC test. Green arrows show gaps, chromatid breaks (chtb) and acentric fragments (ace). Red arrows show radial figures. Blue arrow shows chromatid interchange figure. f Partial array-CGH result showing the 16q24.3 deletion in the proband (patient IV.3). The same heterozygous deletion was detected in his siblings and mother. g Visualisation of FANCA sequencing reads showing c.3337A > T; p.Asn1113Tyr variant (g1), and Sanger sequencing electrophoregram plots confirming the variant (g2—wild type found in the mother III.3, and younger daughter IV.6, g3—mutation in the heterozygous father III.2, g4—mutation in the only copy of the gene in IV.3 and IV.4 siblings)