Although clinical features in Turner syndrome have been well defined, underlying genetic
factors have not been clarified. To deduce the factors leading to the development of clinical …

Adult female carriers of balanced X; autosome translocations (118 cases) and of balanced X
inversions (31 cases) have been collected from the literature. Forty-five of the 118 …

A review is given of the incidence, cytogenetics, and biologic relevance of pericentric
inversions (pii). In 251 cases in the literature and our patients, 96 different inversion forms …

To define the principal characteristics of X-autosome translocations, the authors present a
study of 105 cases, five of which are personal observations. The autosomal pairs 15, 21, and …

A complex and unique, apparently balanced translocation involving three autosomes and an
X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate …

A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t
(X; 6)(p21; q21) is reported. Four other previously described (X; A) translocations associated …

Familial hypomagnesemia with secondary hypocalcemia (HSH)(MIM 307600) was studied
in three inbred Bedouin kindreds from Israel. The three kindreds, one extended and two …

Reports of 107 cases (89 females and 18 males) with balanced X-autosome translocations
and 11 cases with pericentric inversions (and their families) have been reviewed. Of the 78 …

We describe a new case of partial deletion of the long arm of the X chromosome, found in a
24‐year‐old female with secondary amenorrhea; the karyotype of the proposita is 46, X, del …

Females with balanced X-autosome translocations are a clinically heterogeneous group of
patients in which X breakpoint position and replication behaviour may influence phenotypic …