๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Partial trisomy 4q and preaxial limb defects

โœ Scribed by Iosif W. Lurie


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
38 KB
Volume
138A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Partial trisomy 4q syndrome: Case report
โœ Jaroslav Cervenka; Gholam Reza Djavadi; Robert J. Gorlin ๐Ÿ“‚ Article ๐Ÿ“… 1976 ๐Ÿ› Springer ๐ŸŒ English โš– 901 KB

This communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(Q27;Q25)]. Three generations of the patient's family were karyotyped and her mother and brother were found to be balanced translocation carriers. From the patient's clinical examination

Partial trisomy 4q in two unrelated case
โœ Milly Andrle; A. Erlach; A. Rett ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 302 KB

Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously report

Partial trisomy 4q due to familial 2/4 t
โœ B. Biederman; P. Bowen ๐Ÿ“‚ Article ๐Ÿ“… 1976 ๐Ÿ› Springer ๐ŸŒ English โš– 953 KB

The case of a 5-year-old boy with partial trisomy for the long arm of chromosome No. 4 is described. The pattern of abnormal development in this and in 12 previously reported cases is similar, but the phenotype is not as characteristic as that associated with some other types of chromosomal imbalanc

Omphalocele and partial trisomy 1q syndr
โœ H. Chen; J. J. Gershanik; J. B. Mailhes; I. D. Sanusi ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 607 KB

A male infant with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat) is described. Clinical findings include small for gestational age, hypoglycemia, ocular hypertelorism, microphthalmia, coloboma of the iris, low-set ears, beak nose, micrognathia, micropenis, cryptorchidism, presacral

Partial trisomy 4q: Two cases with a fam
โœ Mario Stella; Aldo Bonfante; Gianfranco Ronconi; Giovanni Rossi ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 353 KB

Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27 to qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between chromosomes 4 and 18. Altogether, two partial trisomies 4q, five

Partial trisomy 8q and partial monosomy
โœ Chih-Ping Chen; Chen-Chi Lee; Chen-Wen Pan; Twan-Yin Kir; Be-Fong Chen ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 189 KB ๐Ÿ‘ 1 views

We describe perinatal findings in a female fetus with partial trisomy 8q(8q24.1<8qter) and partial monosomy 15q(15q26.1<15qter) resulting from a paternal t(8;15) reciprocal translocation. Prenatal sonographic examination showed intra-uterine growth retardation, bilateral ventriculomegaly, cardiomega