Table 1

Patients harbouring Y deletions: clinical description and breakpoints

Present patientsBarbaux et al18 Salo et al 19
TSDMPPPAATCS8910
Breakpoint localisationYp(PAR) Yq (4B/5A)Yp(PAR) Yq (5D)Yq (4B/5A)Yq (4B/5A)Yq (5E/5F)Yq (5I)Yq (4B/5A)Yq (4B/5A)Yq (4B/5A)
Phenotype
Azoospermia+++++
 Short stature++++++
Somatic stigmata
 Skeletal
 Short neck+
 Cubitus valgus+++
 Short metacarpals/metatarsals++?
 Shield-like chest+++
 Micrognathia+
Lymphogenic obstruction
 High arched palate++
 Low posterior hair line+
 Nail dysplasia+
Cardiovascular abnormalities
 Atrioseptal defects+
Miscellaneous
 Pigmented naevi+++
 Antimongoloid slanting of palpebral fissures+
 Widely spaced nipples+