Table 2 Summary of the seven patients from the sex chromosome aneuploidy cohort who exhibited discordant features and for whom no second genetic diagnosis was made
Patient | Karyotype | SCA concordant features | SCA discordant features | Additional molecular testing | Molecular findings |
|---|---|---|---|---|---|
6 | 47,XXY (birth) | Speech delay (2 yo); Oppositional defiant disorder, ADHD (5 yo) | Diaphragmatic hernia, tetralogy of Fallot (birth); seizures (2 wk); intestinal malrotation (4 mo) | Chromosomal microarray (birth) | Negative |
7 | 47,XXY (14 yo) | Tall stature, ADHD (12 yo), hypogonadism (14 yo) | Arachnodactyly, pectus excavatum, mitral insufficiency | COL3A1 single gene testing (14 yo) | Negative |
8 | 45,X (prenatal) | Motor and speech delay (1 yo); precocious puberty (2 yo); autism spectrum disorder (8 yo) | Ventricular septal defect (prenatal); absence seizures (2 yo); strabismus (3 yo); schizophrenia (8 yo) | Chromosomal microarray, genome sequencing (10 yo) | Negative |
9 | 47,XXX (birth) | Motor and speech delay (2 yo) | PFO, PDA, ventricular septal defect (5 mo) | None | Not applicable |
10 | 47,XXY (birth) | Motor and speech delay (1 yo) | Atrial septal defect, bilateral hydronephrosis (birth) | Chromosomal microarray (2 mo) | Negative |
11 | 47,XXX (2 yo) | Motor and speech delay (16 mo) | Severe metatarsus adductus (18 mo); arachnodactyly, hypotonia (22 mo) | Chromosomal microarray, Fragile X testing (2 yo) | Negative |
12 | 47,XXY (birth) | None | Bilateral hydronephrosis (1 mo) | Chromosomal microarray (birth) | Negative |
