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A girl with karyotype 46,XX,del(7)(pter→q32:)

✍ Scribed by Ursula Friedrich; Ole Østerballe; Stener Stenbjerg; Jan Jørgensen

Publisher
Springer
Year
1979
Tongue
English
Weight
453 KB
Volume
51
Category
Article
ISSN
0340-6717

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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.

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

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Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter→q2200::q3200→qter)
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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