Table II.

Biochemical and genetic findings in all reported affected females with MD and variant phenotypes.

Report	Low serum Cu, ceruloplasmin	Cytogenetic abnormality	ATP7A alteration
Barton et al, 1983	unknown	Mosaic TS	unknown
Favier et al, 1983			unknown
Kapur et al, 1987	x	46,X, t(X;2) (q13;q32.2)	unknown
Gerdes et al, 1990	x		unknown
Beck et al, 1994	x	46,X, t(X;1) (q13;q12)	unknown
Sugio et al, 1998	x	46,X, t(X;21) (q13.3;p11.1)	unknown
Abusaad et al, 1999	x	46,X, t(X;13) (q13.3;q14.3)	unknown
Sirleto et al, 2009	x	46,X, t(X;16) (q13.3;p11.2)	unknown
Moller et al, 1998	x		exon 6 deletion
			exon 6-9 deletion
			intronic missense
	unknown		c.2179G>A
	unknown		c.2383C>A
	x		exon 1 deletion
			c.532G>T
Present report	x	Xq28 deletion	c.3445delC
			exon 8-12 deletion
	x		negative

TS: Turner syndrome