Table 1.

Cytogenetic findings and clinical data in mosaic cases with a supernumerary i(9p) and a normal phenotype

		Sait and Wetzler 2003	McAuliffe et al. 2005	Ogino et al. 2007	Baronchelli et al. 2011	Papoulidis et al. 2012		Present case 2019
						Case 1	Case 2
Age		41	37	10	Adult	20	28	41
Sex		Male	Male	Male	Female	Female	Female	Male
Indication for karyotyping		Skin lesions	Oligozoospermia	Klinefelter-like phenotype	Premature ovarian failure	Familial inv. (7)	IVF for male azoospermia	Oligozoospermia IVF failure
Phenotype		Heathy Hypereosinophilia	Heathy	Heathy Concealed penis	Heathy	Heathy	Heathy	Heathy
i(9p) mosaicism level	Blood	43%	20%	6%	72%	100%	80%	50–60%
	Skin	Unknown	0%	Unknown	Unknown	Unknown	Unknown	Unknown
	Buccal mucosa	Unknown	Unknown	5%	Unknown	65%	Unknown	6%
	Other tissues	Bone marrow 86%	Unknown	Unknown	Unknown	Unknown	Unknown	Urines 50% Sperm 0%
Offspring	Number	Unknown	5 miscarriages 2 neonatal deaths 2 children	No	No	1 child	Unknown	1 miscarriage
	Karyotypes	–	One trisomy 15 and 4 normal	–	–	Unknown	–	–
Origin		Unknown	Unknown	Unknown	Unknown	Unknown	De novo	Unknown