Translocation (13q21q)

Summary A (13q21q) translocation was found in an infant with Down's syndrome. The 17-year-old mother and the grandmother carried the translocation 45,XX,t(13;21)(p12;q11). The great grandparents had normal karyotypes. Fluorescence marker studies suggested that the translocation originated in the great grandmother. The hypothesis was supported by satellite association studies which showed a significant excess of 13–21 and 13–15 associations in the great grandmother.     

Prenatal detection of a paracentric inversion 16(q11.2q13)

We report the prenatal detection of an inherited paracentric inversion 16(q11.2q13).     

Giemsa banding in the t(13q13q) carrier mother of a translocation trisomy 13 abortus

Summary The abortus of a woman who had had three miscarriages and no normal pregnancies had a 46,XX,D-,t(DqDq)+karyotype. The mother was shown to carry the translocation in balanced state; Giemsa banding demonstrated the abnormal chromosome to be t(13q13q)

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Zusammenfassung Die Abortfrucht einer Frau mit 3 Fehlgeburten und keiner normal ausgetragenen Schwangerschaft hat einen Karyotyp 46,XX,D-,t(DqDq)+.Die Mutter hat die gleiche Translokation im balancierten Zustand. Mit Hilfe der Giemsafärbung erwies sich das abnorme Chromosom als t(13q13q).

     

A case of (13q;18q) translocation with proximal 13q monosomy

Summary A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.     

Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34]

A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.     

Unusual findings by fluorescence microscopy of a t(13q14q)

Summary Fluorescence studies in a 13q14q translocation seem to indicate, that the centromeric region of both chromosomes has been preserved. It is assumed, that the 13 centromere, not visible in Giemsa staining, is suppressed by the active 14 centromere. It is emphasized that Robertsonian translocations in man might be due to breaks in the short arms of the involved chromosomes.

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Zusammenfassung Die Färbung einer 13q14q-Translokation mit Quinacrin-Lost scheint zu indicieren, daß die Zentromerregionen beider Chromosomen erhalten sind. Das Zentromer des Chromosoms Nr. 13 ist nicht sichtbar bei Giemsafärbung. Es ist möglich, daß es durch das aktive 14-Zentromer unterdrückt worden ist. Zentrische Fusionen beim Menschen können somit wahrscheinlich durch Brüche an beiden kurzen Armen der implizierten Chromosomen entstehen.

     

Partial trisomy of 13(pter→q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat

Summary A 36-month-old boy presented with short stature, short neck, shield-shaped chest, and mental retardation. Chromosome analysis showed trisomy for the short arm and the proximal portion of the long arm of chromosome 13 [47,XY,+der(13),t(13;22)(q12;q13)mat]. The patient's mother has a balanced translocation between the long arms of chromosomes 13 and 22 [46,XX,t(13;22)(q12;q13)]. The patient's neutrophils showed an elevated number of nuclear projections and his fetal hemoglobin level was undetectable.     

inv(5)(p13q13) in a four generation pedigree

A 4 1/2 years old boy was found to have hypoplasia of the pectoralis major right muscle and a karyotype 46,XY,inv(5)(p13q13)mat. This inversion, probably independent of the boy's malformation, was present in at least four generations and it seems neither to impair fertility nor to yield viable recombinants.     

Trisomy 16q13→qter in a infant from a t (11;16)(q25;q13) translocation-carrier father

Summary A female infant with 16q trisomy resulting from a paternally inherited balanced translocation is described and compared with five previously reported cases. All the babies were of low birth weight and expired within 1 year, with only one exception. Necropsy of the present case revealed atrial septal defect, single left lobe of the lung, anomalous lobulation of the liver, agenesis of the gall bladder, and anovestibular fistula.     

Trisomy 13 with a 13q14q translocation.

A sporadic case of Patau syndrome with 46,XY,14-,t(13q14q)+ karyotype is reported in a 2-month-old child. Dermatoglyphic and cytogenetic findings of the propositus and cytogenetic study of his parents are presented.     

The phenotype in partial 13q trisomies,apropos of a familial (13;15)(q22;q26) translocation

Summary 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.     

A homologous tandem translocation [45,XX,-13,-13,+t(13;13) (q12;q34)

Chromosomal investigation of a young girl with mental and motor retardation and congenital anomalies revealed a translocation between both members of pair No. 13. Banding analysis showed that the translocation was "tandem," leading to monosomy for segments in both the long and short arms of No. 13.     

Homozygosity for a Robertsonian translocation (13q14q) in three offspring of heterozygous parents

A family containing three homozygous carriers for a Robertsonian (13q14q) translocation, 44,XX or XY,t(13q14q),t(13q14q), is reported. Their parents are first cousins, and both are heterozygous carriers of the same (13q14q) translocation. The fertility of both the heterozygous and homozygous carriers is discussed.