Joachim Walther

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A newborn female, the second child of consanguineous parents, exhibited general muscle hypotonia, apathy, hepatomegaly and failure to thrive from birth and signs of craniofacial dysmorphia were present. Pipecolic and trihydroxicoprostanoic acid were excreted in the urine and serum transferrin, ferritin and iron were markedly elevated. At the age of 7 weeks(More)
Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33-month-old girl with tetrasomy 21 pter-->q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, including brachycephaly, third fontanel, upward slanting palpebral(More)
The association of low birth weight dwarfism, distinct facial dysmorphism and eczematous skin lesions has been described repeatedly since the first description by Dubowitz in 1965. The way of inheritance seems to be in some cases autosomal recessive. Because of the rarity of this entity, another case is reported showing an additional preauricular fistula.
The E2A/PBX1 and the BCR/ABL fusion genes result from the t(1;19)(q23;p13) and the t(9;22)(q34;q11), respectively, and encode oncoproteins which are thought to play an important role in the development of acute lymphoblastic leukemia (ALL) subtypes associated with adverse prognosis. The use of the polymerase chain reaction (PCR) for the detection of these(More)
An HPFH syndrome was found in a woman and her daughter who also carry a 'balanced' cyclic translocation of chromosome segments involving four chromosomes, with one break point located in the region of the Hb beta locus. This HPFH is characterized by 5% and 8% Hb F in peripheral blood, uneven distribution of Hb F in the red cells, and a G gamma/G gamma + A(More)
A set of monozygotic twins affected with unilateral shoulder girdle muscle aplasia is reported. One twin showed Poland-like aplasia of the pectoralis but without the ipsilateral dysmelia, the other aplasia of dorsal spinothoracic muscles. The controversy about exogenous or genetic causes of the Poland anomaly and the whole spectrum of shoulder myaplasia may(More)
UNLABELLED It is agreed, that all phaenomena of human life are under some genetic control, even the emotional and mental elements of the personality. However, the practical application of clinical genetics to classifying and diagnosing psychiatric illness in children is limited to certain patients. These may be classified according to criteria of history(More)