Inherited translocations in two families (t(14q+;10q−) and t(13q−;21q+))

Summary Two families with reciprocal translocations (t(14q+;10q–) and t(13q–;21q+)) are described. In both families the proband had multiple congenital anomalies and an unbalanced karyotype, 46,XY,14q+ and 46,XX,21q+ respectively. Routine, autoradiographic and fluorescence techniques were used for analysis of karyotype of probands and their relatives. The probands' phenotypes and the results of their family members' dermatoglyphic analysis are presented in detail.

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Zusammenfassung Zwei Familien mit reziproker Translokation (t(14q+;10q–) und t(13q–;21q+)) werden beschrieben. In beiden Familien weist der Proband multiple angeborene Mißbildungen und einen unbalancierten Karyotyp (46,XY,14q+ bzw. 46,XX,21q+) auf. Für die Analyse aller untersuchten Personen wurden neben der Routine-Methode autoradiographische und Fluorescenz-Methoden verwendet. Die Phänotypen der Probanden sowie die Ergebnisse einer Analyse der Dermatoglyphen bei ihren Familienangehörigen werden genau beschrieben.

     

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

Francois-Neetens fleck (mouchetée) corneal dystrophy is an autosomal dominant corneal dystrophy characterized by scattered small white flecks occurring at all levels of the corneal stroma. We report linkage of the CFD locus to D2S2289 (Z(max)=4.46, theta=0), D2S325 (Z(max)=3.28, theta=0), D2S317 (Z(max)=3.1, theta=0), D2S143 (Z(max)=3.8, theta=0.03), and D2S2382 (Z(max)=5.0, theta=0) on chromosome 2q35. Multipoint analysis confirmed linkage to the region between D2S117 and D2S126 with a maximum multipoint lod score of 5.0 located midway between D2S2289 and D2S325. Analysis of CFD in these same families assuming a 90% penetrance increased the maximum lod score to 6.28 at D2S157.     

Pure monosomy and trisomy 2q24.2→q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations

Summary An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described 2q aneusomic individuals led to the conclusion that a large cleft between first and second toes is a constant feature in monosomy 2q24q31. No other trait could plausible be mapped. Risks of 7.9 to 31.9% for aneusomic children and of 26.3% for abortion were estimated in the present family.     

用地高辛标记原位杂交技术定位黄鳝rRNA基因于二价染色体3q12─q24和7q14─q26

以地高辛标记重组质粒ＰＴＡ７１中所含的小麦ｒＲＮＡ基因作为探针,与ＥｃｏＲＩ酶切的黄鳝核基因组总ＤＮＡ经Ｓｏｕｔｈｅｒｎ杂交,呈现２条带,片段长度分别为１２．８ｋｂ和４．６ｋｂ。再运用染色体原位杂交技术及杂交后多重带显带技术,定位ｒＲＮＡ基因于黄鳝二价染色体３ｑ１２－ｑ２４和７ｑ１４－ｑ２６两个区间,其分布位点与硝酸银染色法结果相符。此外,还讨论了在黄鳝二价体上开展基因定位研究的突出优点。     

Génétique moléculaire des dysgénésies testiculaires

The first step of male differentiation is the testis determination which is genetically controled. The key role of SRY gene is now established. However, a number of clinical and genetic data favoured the role of other genes taking place upstream or downstream SRY. Most of 46, XX males possess a translocated SRY gene and thus develop testis, but SRY gene is not found in 10% of such patients. Likewise, the molecular study of 46, XY females participated in the identification of SRY as testis determining factor, but 80% of XY gonadal dysgenesis are not explained by an abnormality of SRY gene. Several clinical situations permitted to suspect the role of autosomal (chromosome 1, 9, 10 17 …) and X chromosome loci in the pathology of sex determination. Some recent works concern, in particular, the testis determining factor of the X chromosome (TDF-X) that could act as a repressor of the testis differentiation. In conclusion, molecular mechanisms of sexual determination appear to be much complex, involving probably several genes in a pathway that remain to be elucidated.     

Cancer et Hérédité

Sans résumé     

人类中新发现的同源14q14q罗伯逊易位染色体

罗伯逊易位(Robertsonian translocation)是指近端着丝粒染色体之间的着丝粒融合,进行遗传信息转录的核糖体顺反子(ribosomal cistron)就位于这些染色体的短臂与随体之间。罗伯逊易位染色体对于人类中某些染色体病的传递以及哺乳类核型的进化都有重要的意义。     

Chromosomes et hétérochromosomes de ténébrionidés

Sans résumé Avec 81 figures dans le texte     

Systématique moléculaire des Mélitées

The holarctic subfamily Melitaeinae of Nymphalid butterflies (old genus Melitaea Hbn.) has been split into various genera by morphological systematics, but this division has been debated. This work presents the results of a preliminary survey of European taxa using two types of molecular criteria: analysis of enzyme variation by electrophoresis (19 loci) and sequencing of a mtDNA fragment (ND1 gene). The information provided by both kinds of markers are largely congruent. The division of the subfamily into two monophyletic lines corresponding to the genera Euphyryas s. 1. and Melitaea s. l. is validated. The subsequent division of the former genus into two units, Eurodryas and Hypodryas is also confirmed by molecular criteria. Inside rhe old genus Melitaea, a monophyletic assemblage, corresponding to the ‘Mellicta group’ is disclosed, but the phylogeny of the other species of the group is confused. Uniting them in a ‘Didymaeformia group’ or in a genus Melitaea s. str. risks rhe generation of a paraphyletic assemblage. It remains to be determined whether or not these results are due to insufficient resolution, or whether they reflecr a real evolutionary pattern     

Two reciprocal translocations t(9p+;13q−) and t(13q−;21q+)

Summary Two reciprocal balanced translocations 46,XY,t(9;13)(p23;q21) and 46,XX,t(13;21)(q21;q21), identified by RFA- and GTG-banding, are presented along with a complete study of both families.In the second case a 3:1 segregation is associated with an unbalanced 2:2 segregation, as demonstrated in the two surviving sons: one with interchange trisomy 21 and the other with partial trisomy 13 and partial monosomy 21. This suggests that the presence of this translocation, and possibly of other translocations involving morphologically similar chromosomes, could signify a high risk of having chromosomal disorders in offspring.     

Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28

Summary We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28–q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 32 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25–3q28.