Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1)

European Journal of Human Genetics

Volumn 16, Issue 8, 2008, Pages 897-905

  Giorda, Roberto ^a   Bonaglia, M Clara ^a   Milani, Greta ^a   Baroncini, Anna ^b   Spada, Francesca ^b   Beri, Silvana ^a   Menozzi, Giorgia ^a   Rusconi, Marianna ^a   Zuffardi, Orsetta ^c,d  

^a SCIENTIFIC INSTITUTE   (Italy)

^b AUSL Imola   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CPG OLIGODEOXYNUCLEOTIDE; DNA;

ACUTE OTITIS MEDIA; ANAMNESIS; ARTICLE; ASTIGMATISM; ATTENTION DEFICIT DISORDER; BODY DYSMORPHIC DISORDER; BRACHYCEPHALY; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 5; CHROMOSOME TRANSLOCATION X; CHROMOSOME XQ; CLINICAL FEATURE; CONDUCTION DEAFNESS; CPG ISLAND; DNA METHYLATION; EPICANTHUS; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HEAD CIRCUMFERENCE; HEARING TEST; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYBRID CELL; HYPERTELORISM; KARYOTYPE; LIP MALFORMATION; LOW SET EAR; MICROCEPHALY; MICROSTOMIA; MICROTIA; MOLECULAR CLONING; NECK MALFORMATION; NOSE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SKULL RADIOGRAPHY; UPWARD PALPEBRAL SLANT; VALGUS KNEE; X CHROMOSOME INACTIVATION;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, X; CPG ISLANDS; DEVELOPMENTAL DISABILITIES; DNA METHYLATION; FACIAL BONES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MICROCEPHALY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSLOCATION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 48249127946     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.28     Document Type: Article

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