We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The present report deals with a new case of monosomy X combined with t(13;14). As the translocation was paternally inherited, we wanted to evaluate if the second aberration (XO) had the same origin. Simple dinucleotide sequence repeats have been shown to be highly polymorphic and useful in genetic analysis since they are readily assayed by PCR.3 Therefore, we based our analysis on the microsatellite marker located at the extreme terminus of the dystrophin gene.4The proband, a 16 year old girl, was admitted to hospital because of short stature and primary amenorrhoea. Physical examination showed phenotypic characteristics of Turner's syndrome: small mandible, epicanthic folds, hypertelorism, low set ears, short neck with pterigium and low W shaped posterior hair line, shield chest, undeveloped breasts with widely spaced hypoplastic nipples, cubitus valgus, short fourth and fifth metacarpals, short fifth finger with clinodactyly, and gonadal dysgenesis. Her intelligence was normal. At the time of birth her mother was 22 and her father was 23 years old. Her parents had a second daughter, six years younger and phenotypically normal. The mother had no history of spontaneous abortion and the father is a phenotypically normal male.Chromosome analysis was performed on trypsin G banded chromosome preparations from peripheral lymphocyte cultures; 50 metaphases were scored.Polymerase chain reaction was carried out on DNA extracted from blood samples. The oligonucleotides4 allowed the amplification of markers DYS 1 and DYSI 1 1, with a size range of 177 to 185 bp and 219 to 225 bp, respectively. Reactions and conditions of the amplification were as described by Feener et al4 and the PCR products were electrophoresed on a 5% non-denaturing polyacrylamide gel (figure A). The alleles of the marker were separated on a 10% non-denaturing polyacrylamide gel and visualised by ethidium bromide staining (figure B).In the proband's lymphocytes, besides monosomy X, cytogenetic analysis showed the presence of a Robertsonian translocation: 44,X,t(1 3q; 14q) (data not shown). The translocation chromosome was inherited from her father, whose karyotype was 45,XY,t(13q;14q). The karyotypes of her mother and sister were normal.Amplification of the DYS1 marker was not informative in our family (data not shown).

Partial karyotypes showing chromosomes 13 and Y using Ag-NOR-G banding and C banding (proband, top two rows, father, bottom two rows).

A tandem duplication of 14q24→q32, estimated by G‐ and R‐banding, was found in a male newborn with growth retardation and congenital malformations. His clinical picture is compared with that of three patients from the literature with partial trisomy for a similar segment of 14q due to a parental reciprocal translocation or a de novo translocation.