𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Familial inv(1)(p3500q21.3) associated with azoospermia

✍ Scribed by H. Rivera; M. C. Alvarez-Arratia; M. Moller; M. Díaz; J. M. Cantú

Book ID
104705478
Publisher
Springer
Year
1984
Tongue
English
Weight
644 KB
Volume
66
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Familial translocation t(1p-;21q+) assoc
Familial translocation t(1p-;21q+) associated with Down's syndrome
✍ Elzbieta Kubień; Alicja Kleczkowska 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 411 KB

Familial occurrence of 1/21 translocation in connection with trisomy 21 was described. The possibilities of inheritance of further chromosome rearrangements arising during the gametogenesis of persons with this translocation were considered.

Mild phenotype associated with inv dup 8
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin
✍ Tupler, Rossella; Pagliano, Emanuela; Barbierato, Laura; Lanzi, Giovanni; Marasc 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 2 views

We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from

De novo inv(2)(p21q31) associated with i
De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts
✍ Weaver, R. Grey ;Rao, Nagesh ;Thomas, Ioan T. ;Pettenati, Mark J. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 420 KB

We report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous associations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development. ## KEY WOR