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A girl with karyotype 46,XX,del(7) (qter→p15:)

✍ Scribed by Ursula Friedrich; Troels Lyngbye; Jakob Øster

Publisher
Springer
Year
1975
Tongue
English
Weight
255 KB
Volume
26
Category
Article
ISSN
0340-6717

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✦ Synopsis

A girl with partial deletion of the short arms of one chromosome 7 is described. Among many other symptoms she has craniosynostoses. Early closure of cranio-sutures has previously been described in 2 of 3 patients with partial deletion 7. Investigation of a number of genetic marker systems shows that the HL-A, MN, AcP, and GPT loci are not located in the deleted segment.

📜 SIMILAR VOLUMES

Interstitial deletion of the long arm of
Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter→q2200::q3200→qter)
✍ P. Franceschini; M. Cirillo Silengo; G. F. Davi; M. A. Santoro; G. Prandi; C. Fa 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 196 KB

A newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46, XX,der(7)mat). The patient's mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were similar to

Cebocephaly-holoprosencephaly in a newbo
Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]
✍ Schwartz, Stuart ;Meekins, Joann ;Panny, Susan R. ;Sun, Chen-Chih J. ;Cohen, Mai 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 1 views

Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,de1(7)(pter + q32:). This infant had cebocephaly with holoprosencephaly . These clinical findings are atypical for the 7qsyndrome, in which patients usually have growth and mental retardation with few facial abnormalities.