PMC8012668_01
Pedigree of kindred. On left axis, generations are labeled with Roman numerals I-V. Individual members of the family are labeled with italicized Arabic numerals. Family members related only by marriage are not numbered. Detailed family history was obtained from subject II-2, the maternal great-grandmother of the proband V-1. Subject II-2 postulates that the FAS variant stems from her father's side of the family (I-1) because his sister (not depicted) died of leukemia at age 17.
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F1
The proband (V-1) (Figure 1) is a 7-month-old female who presented to clinic with greater than 6 months of mild anterior and posterior cervical and axillary lymphadenopathy, with the largest lymph node measuring 1 cm in diameter in the neck. Her mother (IV-1 in Figure 1) reported a personal history of splenomegaly, which had been diagnosed along with "kidney enlargement" during her pregnancy, and a family history of splenomegaly, lymphadenopathy, and hematologic malignancy in prior generation maternal relatives. Subject II-2 suspected that she had inherited her tendency toward lymphadenopathy from her father (I-1 in Figure 1), whose sister had died of leukemia at age 17.
PMC8012668_02