Partial trisomy 12p due to t(12;21)pat translocation

Summary Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in five reported cases with a similar chromosomal imbalance shows certain features common to all, but the material is too limited for definitive characterization of a trisomy 12p syndrome.     

Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn

Partial Trisomy 14q is a rare chromosomal disorder that mostly results from a parental translocation. We report here a newborn boy with partial trisomy 14q and dysmorphic features that are compatible with previously reported cases. Conventional cytogenetic analysis revealed an extra chromosomal segment at the end of the short arm of chromosome 4. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of these cytogenetic studies and the physical examination, this dysmorphic case was diagnosed as partial trisomy of 14q and his karyotype determined as 46 XY, der(4)t(4;14)(p16;q32) resulting from a balanced maternal translocation identified as 46,XX, t(4;14)(p16;q32).     

Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat.

A boy with mental and growth retardation associated with congenital anomalies has a partial duplication of the distal 4q chromosome region as a result of inheritance of a t(4:20) from his mother. Comparison with twelve other patients from the literature indicates that similar clinical features may be associated with this chromosome change suggesting a partial 4q duplication syndrome.     

Partial trisomy 14q due to familial t(14q-, 11q+) translocation

Summary A malformed male newborn with partial trisomy for the distal part of the long arm chromosome 14 (14q₂₃14qter) is described. This anomaly arose as a segregation product of a balanced t(14q-, 11q+), translocation in the father.     

Partial trisomy 15q due to maternal translocation t(7;15)(q35;14)]

Partial trisomy for the long arm of chromosome 15 was detected in a 21-year-old girl with severe growth and mental retardation. A balanced reciprocal translocation - t(7;15)(q35;q14) - is present in the mother.     

Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27)

An Xq-duplication was found in a female child with multiple malformations. The family study revealed that her mother, who has a nearly normal phenotype, carries the same duplication. The karyotype of the grandmother shows the existence of a mosaicism: 46,X,del(X) (q23)/46,X,dup(X)(q27----q23). This mosaicism can be related to a translocation t(X;X)(q23;q27) during the first cell division of the zygote.     

Partial trisomy 14q and familial translocation (2;14) (q12;q13).

A female patient with moderate psychomotor retardation, minor anomalies and proximal trisomy 14q due to segregation of a maternal translocation is reported.     

Partial 4q duplication due to Inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of Factor X

A girl with mental retardation had a partial trisomy 4q. The chromosome aberration originated from a maternal balanced translocation t(4;13)(q26;q34). The value for Factor X was half the normal value, raising the question of the location of a gene related to the production of Factor X on chromosome 4.     

Partial trisomy 21 with 45 chromosomes due to translocation of two chromosomes 21 onto a chromosome 14 : 45,XX-14,-21,+t(14q21q21q) (author's transl)

A patient with the phenotype of trisomy 21 and increased activity of superoxide dismutase A is reported with partial trisomy for the distal portion of 21q. The exceptional feature in this case is a 45-chromosome karyotype due to the translocation of two chromosomes 21 onto the distal end of 14q.     

Partial trisomy 2q and familial translocation t(2;12)(q31;q24)

Summary Report is given of a boy with trisomy of the distal part of the long arm of chromosome 2 (q31ter) due to a balanced 2/12 translocation in the mother: 46,XX,t(2;12) (q31;q24). Other phenotypically normal carriers of this balanced translocation are the patients sister and grandfather. The patient shows a variety of dysplastic signs mainly of the face.     

Partial monosomy 7q syndrome due to distal interstitial deletion

Summary A female infant was ascertained at 10 weeks because of failure to thrive and a peculiar cry and was found to have few morphologic variants. Her karyotype was 46,XX,del(7)(q3105: :q3405). The parental karyotypes were normal. At one year she manifested physical retardation and development delay and required surgery for gastroesophageal incompetence. The phenotypic characteristics of this patient and those of six previously reported cases of 7q medial or distal interstitial deletion include many anomalies. Morphologic abnormalities of the head, ears, eyes, mouth, chest, hands, feet, and nerves combined with characteristics of birth weight, growth, and development define a detectable syndrome. An unusual cry may help in the recognition of this new syndrome.     

Partial trisomy 2q and familial translocation t(2;18)(q31;p11)

Summary This report describes a malformed infant with distal 2q trisomy/ distal 18p monosomy due to adjacent segregation of a familial t(2;18). The rearrangement was present in four generations, and linkage studies were performed.     

Tertiary trisomy 14q-, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22)

Summary Retardation of growth and mental development, craniofacial dysmorphy, limb anomalies, cryptorchidism and repeated infections are observed in a child with 47,XY,+der(14),t(1;14)(q44;q22)pat.     

Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation

In this report we describe the identification of a de novo 46, XX, 13q + by multicolour fluorescence in situ hybridisation (M-FISH), as a partial distal 11q trisomy (11q23.1-->11qter). The clinical phenotype association with this distal 11q trisomy is briefly reviewed.