Prenatal Diagnosis of a Partial Monosomy 7q11→q31 in a Fetus with Split Foot

Abstract

Objective: A 27-year-old woman was referred to our laboratory for genetic counseling at 26 weeks of gestation due to abnormal ultrasound findings including intrauterine growth retardation, Dandy-Walker malformation and lower extremity anomalies. Methods: Chromosome analysis was performed on fetal blood sample obtained by cardiocentesis. Result: We observed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7. Both parents’ chromosomes were normal; thus, the fetal karyotype designation was 46,XX, del(7)(pter→q11::q31→qter) de novo. Skin biopsy sample was taken to confirm the karyotype after therapeutic abortion was performed. The result was identical. Postmortem examination and autopsy showed facial dysmorphism, malformations of the lower extremities and central nervous system anomalies. Conclusion: 7q interstitial deletions cause a wide spectrum of congenital abnormalities and syndromes linked to the deleted segments. Our case had a rather wide chromosome region deleted and it is important, because prenatal diagnosis was performed. Thus, the family had the chance to evaluate the situation and decided to terminate the pregnancy after genetic counseling.

Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

“…31, No. 2, 2015; Page 111-118 elevated nuchal fold thickness and cardiac malformations have been reported (27)(28)(29).…”

Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features

“…1, Present Case; 2, Chen et al []; 3, Dirse et al []; 4, Al‐Hassnan et al []; 5, Uliana et al []; 6, Miller et al []; 7, Krepischi‐Santos et al []; 8, Martínez‐Jacobo et al []; 9, Rivera et al []; 10, Cheong et al []; 11, Ayraud et al []; 12, Morey and Higgins []; 13, Serup []; 14, Young et al [] (patient 5); 15, Dennis et al []; 16, Hull et al []; 17, Franceschini et al []; 18, Fagan et al [] (case 3); 19, Abuelo and Padre‐Mendoza []; 20, Manguoglu et al []; 21, Del Refugio Rivera‐Vega et al []; 22, Montgomery et al []; 23, Higginson et al []; 24, Klep‐de Pater et al [] (case 1); 25, Yilmaz et al []; 26, Kim et al []; 27, Zackowski et al []; 28, McElveen et al []; 29, Stallard and Juberg []; 30, Johnson et al []; 31, Pfeiffer []; 32, Valentine and Sergovich []; 33, Tajara et al []; 34, Chitayat et al [].…”

“…Interstitial deletions of chromosome 7q are relatively rare and are classified into three main categories according to which cytogenetic bands are involved: proximal (7q11 → q21), intermediate (7q21 → q32), and terminal (7q32 → qter) [Gibson et al, ; Young et al, ; Chitayat et al, ; Fagan et al, ; Tajara et al, ; Morey and Higgins, ; Zackowski et al, ; Yilmaz et al, ; Cheong et al, ; Martínez‐Jacobo et al, ; Kim et al, ; Del Refugio Rivera‐Vega et al, ]. Thirty‐three cases with partial deletions involving the 7q22q31 region have been described previously.…”