ABSTRACT
A 4 year-old boy was found to have a typical 7p2 monosomy syndrome, including craniosynostosis, due to a de novo del(7)(pter----p21.2::p15.2----qter). It is concluded that the band 7p21 (probably only the subband p21.1) is the critical segment for the full clinical expression of this aneusomy.
Subject(s)
Chromosome Aberrations/genetics , Chromosome Deletion , Chromosomes, Human, 6-12 and X , Craniosynostoses/genetics , Monosomy , Child, Preschool , Chromosome Banding , Chromosome Disorders , Humans , MaleABSTRACT
A 2 4/12-year-old girl whith a de novo 46,XX,-22 + der(22), t(19;22)(q13.2;p11) karyotype is described. From this and other eight similar cases previously published, a typical phenotype in distal 19q trisomy is concluded.
Subject(s)
Translocation, Genetic , Trisomy , Abnormalities, Multiple/genetics , Child, Preschool , Chromosomes, Human, 19-20 , Female , Humans , KaryotypingABSTRACT
A 12 month-old male patient with a karyotype 46,XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a 46,XY,der(13) karyotype. Phenotypic analysis of 41 cases from the literature with partial distal 13q (D13q) trisomies indicate that the segment 13q22----qter in trisomy with or without another concomitant aneusomy is sufficient to produce the majority of the trisomy 13 syndrome features, some of which (cleft palate, increased HbF and projections in PMN) are present in different non-overlapping partial 13q trisomies. About 82% of the D13q trisomies are inherited, more frequently from the mother.
Subject(s)
Chromosomes, Human, 13-15 , Translocation, Genetic , Trisomy , Adult , Chromosome Banding , Female , Humans , Infant , Karyotyping , Male , Pedigree , PhenotypeABSTRACT
A two year-old boy with congenital malformations, psychomotor retardation and absence of phenotypical features of the Langer-Giedion syndrome (LGS) was found to have a de novo del (8) (q212q2200). The comparative analysis with other 8q monosomic cases suggests the existence of at least two distinct syndromes: one due to the monosomy of a part of the segment 8q22----q24, clinically manifested as the LGS, and the other to the deletion of the band 8q21.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, 6-12 and X , Chromosome Banding , Humans , Infant, Newborn , Male , Psychomotor Disorders/genetics , SyndromeABSTRACT
A 3-year-old 49,XXXXX girl, the seventeenth case in medical literature, is described. A typical characteristic of the syndrome is the round face with epicanthal folds, hypertelorism, broad flat nasal bridge, upward slant of the palpebral fissures, enlarged round mandible and pointed chin, somewhat resembling trisomy 21. The apparent stronger selection against 49,XXXXX aneuploidy versus the 49,XXXXY suggested by the much higher frequency of the latter is probably due to the more severe congenital cardiopathy which may be related to the number of inactivated X chromosomes.
