Table 1 Summary of DIS patients with homozygous 15q15.3 microdeletion
Publication | Patient gender | Patient age | Phenotype | Consanguinity? |
|---|---|---|---|---|
Zhang et al. (family D_SM) | Male (n = 4) | 23 and 35 years, not provided for rest | All have sensorineural HL and no syndromic features; one male had sperm motility assessed: asthenoteratozoospermia | Yes |
Zhang et al. (family L705) | Female (n = 2), male (n = 1) | Females 35 and 20 years, male not provided | All have sensorineural HL and no syndromic features; sperm motility assessment not performed | Yes |
Zhang et al. (family L1014) | Female (n = 1), male (n = 2) | Males: 26 and 21 years; female 17 years | All have sensorineural HL and no syndromic features; both males have asthenoteratozoospermia | Yes |
Avidan et al. | Male | 56 years | Moderate sensurineural HL, infertility (asthenoteratozoospermia) | No; two brothers with similar phenotype |
Knijnenburg et al. | Male | 10 years | Moderate, bilateral sensorineural HL, MR, short stature, dysmorphic features, normal HC, sperm motility assessment not performed | No |
This publication | Female | 13 months | Mild/moderate bilateral sensorineural HL, macrocephaly | No |