Chromosome 1q23.3q31.1 deletion associated with decreased newborn screening of T cell receptor rearrangement circles (TRECs)

We report a female newborn with abnormal newborn screening (NBS) for severe combined immunodeficiency (SCID)/T cell lymphopenia and chromosome 1q23.3q31.1 deletion. The infant was born at 36-weeks gestation with a birthweight of 1160 grams. At 20-weeks gestation, intrauterine growth retardation, bilateral cleft-lip and cleft-palate, absent kidney, absent stomach bubble, and lateral ventriculomegaly were identified. At birth, she had microcephaly, hypertelorism, bilateral low-set ears with over-folded helices, bilateral complete cleft-lip and cleft-palate, holosystolic murmur and a split second heart sound with a loud P2, sacral dimple, small hands with brachydactyly, left hand with single transverse palmar crease, clinodactyly of 5th fingers bilaterally, small feet bilaterally, and overlapping 2nd and 3rd toe on the right foot.

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